Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders...
Saved in:
| Published in | Cerebellum (London, England) Vol. 19; no. 3; pp. 446 - 458 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Springer US
01.06.2020
Springer Nature B.V |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1473-4222 1473-4230 1473-4230 |
| DOI | 10.1007/s12311-020-01109-7 |
Cover
| Abstract | Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide. |
|---|---|
| AbstractList | Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide. Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide. Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide.Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide. |
| Author | Teive, Helio Velázquez-Pérez, Luis Ashizawa, Tetsuo Saraiva-Pereira, Maria Luiza Magaña, Jonathan J. Cisneros, Bulmaro Cerecedo-Zapata, César M. Rodríguez-Labrada, Roberto Vazquez-Mojena, Yaimeé Medrano-Montero, Jacqueline Gomez, Christopher M. Jardim, Laura Bannach Martins, Ana Carolina Fernandez-Ruíz, Juan McFarland, Karen N. |
| AuthorAffiliation | 13 Cuban Academy of Sciences, 10100 La Havana, Cuba 1 Centre for the Research and Rehabilitation of Hereditary Ataxias, 80100 Holguín, Cuba 5 Department of Genetics and Molecular Biology, Center of Research and Advanced Studies (CINVESTAV-IPN), 07360 Mexico City, Mexico 6 Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná, Curitiba, PR 80240-440, Brazil 10 Rehabilitation and Social Inclusion Center of Veracruz (CRIS-DIF), Xalapa, 91070 Veracruz, Mexico 3 Department of Genetics, Laboratory of Genomic Medicine, National Rehabilitation Institute (INR-LGII), 14389 Mexico City, Mexico 4 Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autonoma de Mexico, 04510 Mexico City, Mexico 8 Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS 90035-903, Brazil 12 Program of Neuroscience, Houston Methodist Research Institute, Houston, TX 77030, USA 14 Departamento de Medicina Interna, Universidade Federal d |
| AuthorAffiliation_xml | – name: 1 Centre for the Research and Rehabilitation of Hereditary Ataxias, 80100 Holguín, Cuba – name: 9 Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS 90035-903, Brazil – name: 10 Rehabilitation and Social Inclusion Center of Veracruz (CRIS-DIF), Xalapa, 91070 Veracruz, Mexico – name: 13 Cuban Academy of Sciences, 10100 La Havana, Cuba – name: 7 University of Florida, Gainesville, Florida 32610, USA – name: 14 Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS 90035-903, Brazil – name: 6 Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná, Curitiba, PR 80240-440, Brazil – name: 3 Department of Genetics, Laboratory of Genomic Medicine, National Rehabilitation Institute (INR-LGII), 14389 Mexico City, Mexico – name: 4 Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autonoma de Mexico, 04510 Mexico City, Mexico – name: 8 Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS 90035-903, Brazil – name: 12 Program of Neuroscience, Houston Methodist Research Institute, Houston, TX 77030, USA – name: 2 Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS 91540-070, Brazil – name: 5 Department of Genetics and Molecular Biology, Center of Research and Advanced Studies (CINVESTAV-IPN), 07360 Mexico City, Mexico – name: 11 Department of Neurology, The University of Chicago, Chicago 60637, USA |
| Author_xml | – sequence: 1 givenname: Roberto surname: Rodríguez-Labrada fullname: Rodríguez-Labrada, Roberto organization: Centre for the Research and Rehabilitation of Hereditary Ataxias – sequence: 2 givenname: Ana Carolina surname: Martins fullname: Martins, Ana Carolina organization: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS) – sequence: 3 givenname: Jonathan J. surname: Magaña fullname: Magaña, Jonathan J. organization: Department of Genetics, Laboratory of Genomic Medicine, National Rehabilitation Institute (INR-LGII) – sequence: 4 givenname: Yaimeé surname: Vazquez-Mojena fullname: Vazquez-Mojena, Yaimeé organization: Centre for the Research and Rehabilitation of Hereditary Ataxias – sequence: 5 givenname: Jacqueline surname: Medrano-Montero fullname: Medrano-Montero, Jacqueline organization: Centre for the Research and Rehabilitation of Hereditary Ataxias – sequence: 6 givenname: Juan surname: Fernandez-Ruíz fullname: Fernandez-Ruíz, Juan organization: Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autonoma de Mexico – sequence: 7 givenname: Bulmaro surname: Cisneros fullname: Cisneros, Bulmaro organization: Department of Genetics and Molecular Biology, Center of Research and Advanced Studies (CINVESTAV-IPN) – sequence: 8 givenname: Helio surname: Teive fullname: Teive, Helio organization: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná – sequence: 9 givenname: Karen N. surname: McFarland fullname: McFarland, Karen N. organization: University of Florida – sequence: 10 givenname: Maria Luiza surname: Saraiva-Pereira fullname: Saraiva-Pereira, Maria Luiza organization: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS) – sequence: 11 givenname: César M. surname: Cerecedo-Zapata fullname: Cerecedo-Zapata, César M. organization: Department of Genetics, Laboratory of Genomic Medicine, National Rehabilitation Institute (INR-LGII), Rehabilitation and Social Inclusion Center of Veracruz (CRIS-DIF) – sequence: 12 givenname: Christopher M. surname: Gomez fullname: Gomez, Christopher M. organization: Department of Neurology, The University of Chicago – sequence: 13 givenname: Tetsuo surname: Ashizawa fullname: Ashizawa, Tetsuo organization: Program of Neuroscience, Houston Methodist Research Institute – sequence: 14 givenname: Luis surname: Velázquez-Pérez fullname: Velázquez-Pérez, Luis email: velazq63@gmail.com organization: Centre for the Research and Rehabilitation of Hereditary Ataxias, Cuban Academy of Sciences – sequence: 15 givenname: Laura Bannach surname: Jardim fullname: Jardim, Laura Bannach organization: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS) |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32086717$$D View this record in MEDLINE/PubMed |
| BookMark | eNqNkUtP3DAUhS1EVR7tH2BRRWLTTVo_43iFRiNoKyGxKIilZTs3YJSxp3bC49_Xw0yhsECsbMnnu-fc4z20HWIAhA4I_kYwlt8zoYyQGlNcY0KwquUW2iVcsppThref7pTuoL2cbzCmFHP5Ee0wittGErmLLk_iFDpI1XHfgxtzFfvq99KH6CCBhWEwqZqN5t6bXPlQjddQzRaQvDOhmscw-gChUCZ0j29zk7y1YMIn9KE3Q4bPm3MfXZwcn89_1qdnP37NZ6e1E5yMNWfFtsVCdoxyx6TsgQmGheVdL61lSjTOWUeVxU5xQQRTUrCGNI3qTcNato_Yeu4UlubhzgyDXia_MOlBE6xXNel1TbrUpB9r0rJQR2tqOdkFdK7skMwzGY3XL1-Cv9ZX8VYTImSJu_L9upmQ4p8J8qgXPrtVXwHilDVlDS1eQvEiPXwlvYlTCqWVolJStbJtm6L68n-kpyz_vqoI6FrgUsw5Qf--RdtXkPOjGX1creWHt9FNs7n4hCtIz7HfoP4CHoPGTA |
| CitedBy_id | crossref_primary_10_1212_NXG_0000000000200109 crossref_primary_10_1007_s12311_024_01784_w crossref_primary_10_1007_s12311_021_01364_2 crossref_primary_10_1016_j_xhgg_2022_100137 crossref_primary_10_1007_s12311_022_01404_5 crossref_primary_10_3390_brainsci14010053 crossref_primary_10_3390_ijms251910750 crossref_primary_10_3390_cells12232735 crossref_primary_10_1186_s40673_021_00130_8 crossref_primary_10_1212_NXG_0000000000200094 crossref_primary_10_3389_fgene_2022_936869 crossref_primary_10_3390_biomedicines9111499 crossref_primary_10_1016_j_parkreldis_2023_105985 crossref_primary_10_1007_s12311_022_01442_z crossref_primary_10_1007_s12031_021_01877_9 crossref_primary_10_1016_j_parkreldis_2023_105961 crossref_primary_10_3390_genes13010157 crossref_primary_10_1002_mdc3_14338 crossref_primary_10_1093_hmg_ddae092 |
| Cites_doi | 10.1086/341358 10.1007/s12311-018-0947-0 10.1016/0888-7543(95)80043-L 10.1038/nature11258 10.1186/s40673-017-0075-5 10.1371/journal.pone.0177955 10.1007/s12035-019-1480-y 10.1038/79911 10.1016/j.parkreldis.2019.08.011inpress 10.1126/science.aav2621 10.1007/s12311-019-1004-3 10.1111/j.1469-1809.2007.00388.x 10.1212/01.wnl.0000265596.72492.89 10.1007/s12311-019-1006-1 10.1517/21678707.2015.1025747 10.1016/j.jvoice.2016.01.010 10.1007/978-3-319-71779-1_17 10.1093/brain/awu174 10.1086/302067 10.1038/ng0997-65 10.1001/archneur.64.10.1502 10.1038/sj.ejhg.5201760 10.1038/378403a0 10.1016/j.cancergen.2017.03.008 10.1007/s12311-015-0719-z 10.1086/302247 10.4103/0972-2327.144285 10.1371/journal.pone.0004553 10.1074/jbc.M111.286609 10.3389/fneur.2017.00485 10.1007/978-3-319-71779-1_9 10.1007/s12311-013-0505-8 10.1002/gepi.20317 10.1007/s12687-018-0369-1 10.1016/j.jns.2015.08.019 10.1016/j.jns.2015.04.053 10.1007/s12311-010-0179-4 10.1016/j.cccn.2004.08.010 10.1007/s11682-015-9389-1 10.1212/01.wnl.0000216266.30177.bb 10.1007/s10048-016-0473-5 10.1136/jnnp-2018-319200 10.1093/hmg/ddr227 10.1111/ane.12371 10.1002/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R 10.1186/s40673-015-0020-4 10.1016/j.jns.2014.10.036 10.1038/jhg.2015.131 10.1111/cge.12719 10.1038/sj.ejhg.5201108 10.1002/mgg3.533 10.1038/ejhg.2013.32 10.1111/j.1399-0004.2010.01508.x 10.1093/hmg/ddg111 10.1038/ejhg.2010.10 10.1038/ng1196-269 10.1038/ng0595-89 10.1016/j.nicl.2018.09.026 10.1212/01.WNL.0000142109.62056.57 10.1007/s12311-008-0027-y 10.1007/s00415-014-7394-8 10.1038/ejhg.2011.154 10.1001/archneur.61.5.727 10.1007/s00401-018-1939-3 10.1016/S1474-4422(13)70104-2 10.1093/brain/awh586 10.1038/sj.ejhg.5200392 10.1007/978-3-540-37654-5_19 10.1002/ajmg.b.31013 10.1016/B978-0-444-51892-7.00014-0 10.1001/archneur.58.6.899 10.1002/mds.25803 10.1111/1467-985X.00180 10.1016/S1474-4422(14)70027-4 10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D 10.3389/fneur.2017.00472 10.1016/0092-8674(93)90585-E 10.1038/306234a0 10.1007/s004150170072 10.1111/ene.13779 10.1007/s10048-014-0424-y 10.1212/NXG.0000000000000026 10.1371/journal.pone.0135906 10.1016/j.neulet.2009.03.015 10.1007/s12017-017-8464-8 10.7196/SAMJ.2016.v106i6.11010 10.1007/s12311-015-0666-8 10.1016/S1474-4422(10)70183-6 10.1086/498654 10.1590/0004-282X20150086 10.1038/ng0595-84 10.1212/01.wnl.0000231140.26253.eb 10.1212/WNL.51.6.1666 10.1001/archneur.64.4.591 10.1016/j.parkreldis.2011.09.024 10.1136/jnnp-2013-305080 10.1111/ejn.14148 10.1080/03639045.2017.1281949 10.1093/hmg/7.2.165 10.3389/fgene.2018.00740 10.1002/mds.25618 10.1007/s10048-013-0385-6 10.1007/s12311-018-0977-7 10.1016/j.cell.2018.10.027 10.1086/318184 10.1038/s41531-017-0029-x 10.1002/mds.21470 10.1034/j.1600-0404.2003.00046.x 10.3174/ajnr.A4903 10.1371/journal.pone.0081342 10.1007/s12311-013-0510-y 10.1038/sj.ejhg.5200557 10.1002/humu.21006 10.1111/cge.12114 10.1093/hmg/4.8.1441 10.1016/S0022-510X(03)00209-0 10.1111/ahg.12200 10.1002/jnr.22786 10.1034/j.1600-0404.2001.00020.x 10.1111/j.1399-0004.2007.00910.x 10.1002/ana.1081 |
| ContentType | Journal Article |
| Copyright | Springer Science+Business Media, LLC, part of Springer Nature 2020 Springer Science+Business Media, LLC, part of Springer Nature 2020. |
| Copyright_xml | – notice: Springer Science+Business Media, LLC, part of Springer Nature 2020 – notice: Springer Science+Business Media, LLC, part of Springer Nature 2020. |
| CorporateAuthor | on behalf of the PanAmerican Hereditary Ataxia Network PanAmerican Hereditary Ataxia Network |
| CorporateAuthor_xml | – name: on behalf of the PanAmerican Hereditary Ataxia Network – name: PanAmerican Hereditary Ataxia Network |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM 3V. 7RV 7TK 7X7 7XB 88E 88G 8FI 8FJ 8FK ABUWG AFKRA AZQEC BENPR CCPQU DWQXO FYUFA GHDGH GNUQQ K9. KB0 M0S M1P M2M NAPCQ PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQQKQ PQUKI PRINS PSYQQ Q9U 7X8 5PM ADTOC UNPAY |
| DOI | 10.1007/s12311-020-01109-7 |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed ProQuest Central (Corporate) Nursing & Allied Health Database Neurosciences Abstracts Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Psychology Database (Alumni) ProQuest Hospital Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central Essentials - QC ProQuest Central ProQuest One Community College ProQuest Central ProQuest Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Database (Alumni Edition) ProQuest Health & Medical Collection Medical Database Psychology Database Nursing & Allied Health Premium ProQuest Central Premium ProQuest One Academic (New) ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China ProQuest One Psychology ProQuest Central Basic MEDLINE - Academic PubMed Central (Full Participant titles) Unpaywall for CDI: Periodical Content Unpaywall |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest One Psychology ProQuest Central Student ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest One Health & Nursing ProQuest Central China ProQuest Central ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) ProQuest Central Korea Health & Medical Research Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Central Basic ProQuest One Academic Eastern Edition ProQuest Nursing & Allied Health Source ProQuest Hospital Collection Health Research Premium Collection (Alumni) ProQuest Psychology Journals (Alumni) Neurosciences Abstracts ProQuest Hospital Collection (Alumni) Nursing & Allied Health Premium ProQuest Health & Medical Complete ProQuest Medical Library ProQuest Psychology Journals ProQuest One Academic UKI Edition ProQuest Nursing & Allied Health Source (Alumni) ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE MEDLINE - Academic ProQuest One Psychology |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: BENPR name: ProQuest Central url: http://www.proquest.com/pqcentral?accountid=15518 sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Anatomy & Physiology |
| EISSN | 1473-4230 |
| EndPage | 458 |
| ExternalDocumentID | oai:pubmedcentral.nih.gov:11578058 PMC11578058 32086717 10_1007_s12311_020_01109_7 |
| Genre | Journal Article Review |
| GeographicLocations | Brazil Cuba Mexico Caribbean Region |
| GeographicLocations_xml | – name: Mexico – name: Caribbean Region – name: Cuba – name: Brazil |
| GrantInformation_xml | – fundername: Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) – fundername: CONACyT grantid: A1‐S‐10669 – fundername: Cuban Ministry of Public Health – fundername: CONACyT grantid: 258043 – fundername: NINDS NIH HHS grantid: R01 NS083564 – fundername: NINDS NIH HHS grantid: R01 NS115002 – fundername: CONACyT grantid: A1-S-10669 |
| GroupedDBID | --- -56 -5G -BR -EM -Y2 -~C .VR 06C 06D 0R~ 0VY 123 1N0 203 29B 29~ 2J2 2JN 2JY 2KG 2KM 2LR 2VQ 30V 36B 3V. 4.4 406 408 40D 40E 53G 5VS 67N 67Z 6NX 7RV 7X7 88E 8FI 8FJ 8TC 8UJ 95- 95. 95~ 96X AAAVM AABHQ AACDK AAHNG AAIAL AAJBT AAJKR AANXM AANZL AARHV AARTL AASML AATNV AATVU AAUYE AAWCG AAYIU AAYQN AAYTO AAYZH ABAKF ABDZT ABECU ABFTV ABHLI ABHQN ABIVO ABJNI ABJOX ABKCH ABMNI ABMQK ABNWP ABPLI ABQBU ABSXP ABTEG ABTHY ABTKH ABTMW ABULA ABUWG ABWNU ABXPI ACAOD ACDTI ACGEJ ACGFS ACHSB ACHXU ACKNC ACMDZ ACMLO ACOKC ACPIV ACPRK ACSNA ACZOJ ADBBV ADHHG ADHIR ADINQ ADKNI ADKPE ADQRH ADRFC ADTPH ADURQ ADXPE ADYFF ADZKW AEBTG AEFQL AEGAL AEGNC AEJHL AEJRE AEKMD AEMSY AENEX AEOHA AEPYU AESKC AETLH AEVLU AEXYK AFBBN AFGCZ AFKRA AFLOW AFQWF AFWTZ AFZKB AGAYW AGDGC AGJBK AGMZJ AGQEE AGQMX AGRTI AGWIL AGWZB AGYKE AHAVH AHBYD AHMBA AHSBF AHYZX AIAKS AIGIU AIIXL AILAN AITGF AJBLW AJRNO AJWEG AJZVZ AKMHD ALIPV ALMA_UNASSIGNED_HOLDINGS ALWAN AMKLP AMXSW AMYLF AMYQR AOCGG ARMRJ ASPBG AVWKF AXYYD AZFZN AZQEC B-. BA0 BDATZ BENPR BGNMA BKEYQ BPHCQ BSONS BVXVI CAG CCPQU COF CS3 CSCUP DDRTE DNIVK DPUIP DU5 DWQXO EBD EBLON EBS EIOEI EJD EMB EMOBN EN4 ESBYG EX3 F5P FERAY FFXSO FIGPU FINBP FNLPD FRRFC FSGXE FWDCC FYUFA G-Y G-Z GGCAI GGRSB GJIRD GNUQQ GNWQR GQ6 GQ7 H13 HF~ HG5 HG6 HLICF HMCUK HMJXF HRMNR HZ~ IKXTQ ITM IWAJR IXC I~X I~Z J-C J0Z JBSCW JZLTJ KOV KPH LLZTM M1P M2M M4Y MA- NAPCQ NPVJJ NQJWS NU0 O9- O93 O9I O9J PF0 PQQKQ PROAC PSQYO PSYQQ PT4 QOR QOS R89 R9I ROL RSV S16 S1Z S27 S3A S3B SAP SBL SDH SHX SISQX SJYHP SNE SNPRN SNX SOHCF SOJ SPISZ SRMVM SSLCW SSXJD STPWE SV3 SZN T13 TSG TSK TUC U2A U9L UG4 UKHRP UOJIU UTJUX UZXMN VC2 VFIZW W48 WK8 WOW YLTOR Z45 Z7U Z82 ZMTXR ZOVNA ~A9 AAPKM AAYXX ABBRH ABDBE ABFSG ABRTQ ACSTC AEZWR AFDZB AFHIU AFOHR AHPBZ AHWEU AIXLP ATHPR AYFIA CITATION PHGZM PHGZT PJZUB PPXIY PUEGO CGR CUY CVF ECM EIF NPM 7TK 7XB 8FK K9. PKEHL PQEST PQUKI PRINS Q9U 7X8 5PM ADTOC UNPAY |
| ID | FETCH-LOGICAL-c541t-43ffe8057d324c377fe35305b4df7bb3956ccbc29b0c945153975361669fa6383 |
| IEDL.DBID | AGYKE |
| ISSN | 1473-4222 1473-4230 |
| IngestDate | Wed Aug 20 00:17:44 EDT 2025 Tue Sep 30 17:06:31 EDT 2025 Fri Sep 05 12:52:07 EDT 2025 Fri Jul 25 22:06:58 EDT 2025 Wed Feb 19 02:17:25 EST 2025 Wed Oct 01 02:45:15 EDT 2025 Thu Apr 24 22:52:33 EDT 2025 Fri Feb 21 02:36:29 EST 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Keywords | SCA7 SCA10 Prevalence SCA3 MJD SCA2 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 7 Founder effects Machado-Joseph disease Spinocerebellar ataxia Latin America and the Caribbean |
| Language | English |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c541t-43ffe8057d324c377fe35305b4df7bb3956ccbc29b0c945153975361669fa6383 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23 Author Contributions LVP and LBJ conceived the study; RRL, LVP, YVM, and JMM contributed to section “SCA2”; ACM, MLSP, and LBJ contributed to section “SCA3/MJD”; JJM, JFR, BC, and CMCZ contributed to section “SCA7”; TA, HT, and KNM contributed to section “SCA10”; LBJ, LVP, and CG contributed to sections “Introduction”; all authors contributed to section “Discussion”; all authors read and approved the submitted version of the manuscript. Roberto Rodríguez-Labrada and Ana Carolina Martins contributed equally to this work. |
| OpenAccessLink | https://www.ncbi.nlm.nih.gov/pmc/articles/11578058 |
| PMID | 32086717 |
| PQID | 2397987886 |
| PQPubID | 1456356 |
| PageCount | 13 |
| ParticipantIDs | unpaywall_primary_10_1007_s12311_020_01109_7 pubmedcentral_primary_oai_pubmedcentral_nih_gov_11578058 proquest_miscellaneous_2362109594 proquest_journals_2397987886 pubmed_primary_32086717 crossref_primary_10_1007_s12311_020_01109_7 crossref_citationtrail_10_1007_s12311_020_01109_7 springer_journals_10_1007_s12311_020_01109_7 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2020-06-01 |
| PublicationDateYYYYMMDD | 2020-06-01 |
| PublicationDate_xml | – month: 06 year: 2020 text: 2020-06-01 day: 01 |
| PublicationDecade | 2020 |
| PublicationPlace | New York |
| PublicationPlace_xml | – name: New York – name: United States |
| PublicationTitle | Cerebellum (London, England) |
| PublicationTitleAbbrev | Cerebellum |
| PublicationTitleAlternate | Cerebellum |
| PublicationYear | 2020 |
| Publisher | Springer US Springer Nature B.V |
| Publisher_xml | – name: Springer US – name: Springer Nature B.V |
| References | XiaGMcFarlandKNWangKSarkarPSYachnisATAshizawaTPurkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10J Neurol Neurosurg Psychiatry201384121409141123813740392357610.1136/jnnp-2013-305080 RaskinSAshizawaTTeiveHAArrudaWOFangPGaoRReduced penetrance in a Brazilian family with spinocerebellar ataxia type 10Arch Neurol20076445915941742032310.1001/archneur.64.4.591 Velázquez-PérezLCRodríguez-LabradaRFernandez-RuizJSpinocerebellar Ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approachesFront Neurol2017847228955296560197810.3389/fneur.2017.00472 HernandezAMagarinoCGispertSSantosNLunkesAOrozcoGGenetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1Genomics.1995254334351:CAS:528:DyaK2MXjvV2hsro%3D778997610.1016/0888-7543(95)80043-L TrottierYLutzYStevaninGImbertGDevysDCancelGSaudouFWeberCDavidGToraLPolyglutamine expansion as a pathological epitope in Huntington’s disease and four dominant cerebellar ataxiasNature.19953784034061:CAS:528:DyaK2MXps1ams7Y%3D747737910.1038/378403a0 MatsuuraTFangPPearsonCEJayakarPAshizawaTRoaBBNelsonDLInterruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?Am J Hum Genet20067811251291:CAS:528:DC%2BD28XhslKrsQ%3D%3D1638545510.1086/498654 MagañaJJGómezRMaldonado-RodríguezMVelázquez-PérezLTapia-GuerreroYSCortésHLeyva-GarcíaNHernández-HernándezOCisnerosBOrigin of the spinocerebellar ataxia type 7 gene mutation in Mexican populationCerebellum.20131269029052382802410.1007/s12311-013-0505-81:CAS:528:DC%2BC3sXhs1Krs77L CintraVPLourençoCMMarquesSEde OliveiraLMTumasVMarquesWJrMutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxiaJ Neurol Sci20143471–23753792546669610.1016/j.jns.2014.10.036 RamosEMMartinsSAlonsoIEmmelVESaraiva-PereiraMLJardimLBCoutinhoPSequeirosJSilveiraICommon origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)Am J Med Genet B Neuropsychiatr Genet2010153B25245311:CAS:528:DC%2BC3cXktF2ns78%3D1967610210.1002/ajmg.b.31013 WangKMcFarlandKNLiuJZengDLandrianIXiaGHaoYJinMMulliganCJGuWAshizawaTSpinocerebellar ataxia type 10 in Chinese HanNeurol Genet201513e2627066563480945910.1212/NXG.0000000000000026 TrikamjiBSinghPMishraSSpinocerebellar ataxia-10 with paranoid schizophreniaAnn Indian Acad Neurol20151819395257453224350226 HardingAEClinical features and classification of inherited ataxiasAdv Neurol1993611141:STN:280:DyaK3s7jsFSnuw%3D%3D8421960 JardimLSilveiraIPereiraMLDo Céu MoreiraMMendonçaPSequeirosJSearching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotypeActa Neurol Scand200310732112141:CAS:528:DC%2BD3sXjtVCgs7w%3D1261431510.1034/j.1600-0404.2003.00046.x AlonsoEMartínez-RuanoLDe BiaseIMaderCOchoaAYescasPDistinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican populationMov Disord2007227105010531742793810.1002/mds.21470 SiebertMDonisKCSocalMRiederCREmmelVEVairoFMichelin-TirelliKFrança M JrD'AbreuACBettencourtCLimaMLopes CendesISaraiva-PereiraMLJardimLBGlucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3Parkinsonism Relat Disord20121821851901:STN:280:DC%2BC387nsVOhtQ%3D%3D2200171110.1016/j.parkreldis.2011.09.024 Hernandez-CastilloCRVaca-PalomaresIBarriosFMartinezLBollMCFernandez-RuizJAtaxia severity correlates with White matter degeneration in spinocerebellar ataxia type 7AJNR Am J Neuroradiol20163711205020541:STN:280:DC%2BC2szgtlSgtg%3D%3D2751624010.3174/ajnr.A4903 TakanoHCancelGIkeuchiTLorenzettiDMawadRStevaninGDidierjeanODürrAOyakeMShimohataTSasakiRKoideRIgarashiSHayashiSTakiyamaYNishizawaMTanakaHZoghbiHBriceATsujiSClose associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populationsAm J Hum Genet199863106010661:CAS:528:DyaK1cXntlCkurY%3D9758625137749910.1086/302067 ElliotPWakefieldJDisease clusters: should they be investigated, and, if so, when and how?J R Statist Soc A2001164131210.1111/1467-985X.00180 Hernandez-CastilloCRKingMDiedrichsenJFernandez-RuizJUnique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7NeuroImage Clin20182093193830308379617819310.1016/j.nicl.2018.09.026 GuioHPotericoJALevanoKSCornejo-OlivasMMazzettiPManassero-MoralesGUgarte-GilMFAcevedo-VásquezEDueñas-RoqueMPiscoyaAFujitaRSanchezCCasavilca-ZambranoSJaramillo-ValverdeLSullcahuaman-AllendeYIglesias-PedrazJMAbarca-BarrigaHGenetics and genomics in Peru: clinical and research perspectiveMol Genet Genomic Med20186687388630584990630565510.1002/mgg3.533 de AssisAMSauteJAMLongoniAHaasCBTorrezVRBrochierAWPeripheral oxidative stress biomarkers in spinocerebellar ataxia type 3/Machado-Joseph diseaseFront Neurol2017848528979235561139010.3389/fneur.2017.00485 SilvaWABonattoSLHolandaAJRibeiro-Dos-SantosAKPaixaoBMMitochondrial genome diversity of Native Americans supports a single early entry of founder populations into AmericaAm J Hum Genet2002711871921:CAS:528:DC%2BD38Xlt1Krtr0%3D1202203910.1086/341358 JacobiHReetzKdu MontcelSTBauerPMariottiCNanettiLRakowiczMSulekADurrACharlesPFillaAAntenoraASchölsLSchicksJInfanteJKangJSTimmannDdi FabioRMasciulloMBalikoLMeleghBBoeschSBürkKPeltzASchulzJBDufaure-GaréIKlockgetherTBiological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline dataLancet Neurol20131276506582370714710.1016/S1474-4422(13)70104-2 MoseleyMLBenzowKAShutLJBirdTDGomezCMBarkhausPEIncidence of dominant spinocerebellar and Friedreich triplet repeats among 361 familiesNeurology.1998516166616711:CAS:528:DyaK1MXhsVOmsA%3D%3D985552010.1212/WNL.51.6.1666 Tercero-PérezKCortésHTorres-RamosYRodríguez-LabradaRCerecedo-ZapataCMHernández-HernándezOEffects of physical rehabilitation in patients with spinocerebellar ataxia type 7Cerebellum.20191833974053070140010.1007/s12311-019-1006-1 CardosoGCde OliveiraMZPaixão-CôrtesVRCastillaEESchuler-FacciniLClusters of genetic diseases in BrazilJ Community Genet20191011211282986064510.1007/s12687-018-0369-1 ZuLFigueroaKPGrewalRPulstSMMapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22Am J Hum Genet19996425945991:CAS:528:DyaK1MXhslOltbk%3D9973298137777010.1086/302247 Forsythe DP. Encyclopedia of Human Rights, Volume 4. Oxford University Press. 2009; p. 297. ISBN 978–0–19-533402-9. AlmeidaTAlonsoIMartinsSRamosEMAzevedoLOhnoKAmorimASaraiva-PereiraMLJardimLBMatsuuraTSequeirosJSilveiraIAncestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)PLoS One200942e455319234597263964410.1371/journal.pone.00045531:CAS:528:DC%2BD1MXis1Kmsr8%3D PulstSSantosNWangDYangHHuynhDVelázquezLSpinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onsetBrain.2005128Pt 10229723031600033410.1093/brain/awh586 JonassonJJuvonenVSistonenPIgnatiusJJohanssonDBjorckEJEvidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in ScandinaviaEur J Hum Genet200089189221:CAS:528:DC%2BD3MXht1Squrg%3D1117527910.1038/sj.ejhg.5200557 AlloteyRTwellsRCemalCNorteBSWeissenbachJPookMThe spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23–24.1Am J Hum Genet1995571851891:STN:280:DyaK2MzjsFKksA%3D%3D76112871801228 Piazza WF. A epope ́ia ac ̧o ́rico-madeirense 1748–1756. Florianopolis: Editora da UFSC, 1992. MartinsSCalafellFGasparCWongVCSilveiraINicholsonGABruntERTranebjaergLStevaninGHsiehMSoongBWLoureiroLDürrATsujiSWatanabeMJardimLBGiuntiPRiessORanumLPBriceARouleauGACoutinhoPAmorimASequeirosJAsian origin for the worldwide-spread mutational event in Machado-Joseph diseaseArch Neurol20076410150215081792363410.1001/archneur.64.10.1502 Huntington’s Disease Collaborative Research GroupA novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomesCell.199372697198310.1016/0092-8674(93)90585-E Escalona-RayoOFuentes-VázquezPLeyva-GómezGCisnerosBVillalobosRMagañaJJQuintanar-GuerreroDNanoparticulate strategies for the treatment of polyglutamine diseases by halting the protein aggregation processDrug Dev Ind Pharm20174368718881:CAS:528:DC%2BC2sXit1WgtLw%3D2814229010.1080/03639045.2017.1281949 ChirinoAHernandez-CastilloCRGalvezVContrerasADiazRBeltran-ParrazalLFernandez-RuizJMotor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumesEur J Neurosci20184810319932113025596210.1111/ejn.14148 GattoEMGaoRWhiteMCUribe RocaMCEtcheverryJLPersiGPoderosoJJAshizawaTEthnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 familyNeurology.20076922162181:STN:280:DC%2BD2svgt1Onsg%3D%3D1762055610.1212/01.wnl.0000265596.72492.89 GusellaJFWexlerNSConneallyPMNaylorSLAndersonMATanziREWatkinsPCOttinaKWallaceMRSakaguchiAYA polymorphic DNA marker genetically linked to Huntington’s diseaseNature.198330659402342381:CAS:528:DyaL2cXhvVKrsA%3D%3D631614610.1038/306234a0 SenaLSCastilhosRMMattosEPFurtadoGVPedrosoJLBarsottiniOde AmorimMMPGodeiroCSaraiva-PereiraMLPereiraMLSJardimLBSelective forces related to spinocerebellar ataxia type 2Cerebellum.20191821881941:CAS:528:DC%2BC1cXhslCjs7bM3021997610.1007/s12311-018-0977-7 McFarlandKNLiuJLandrianIGodiskaRShankerSYuFFarmerieWGAshizawaTSMRT sequencing of long tandem nucleotide repeats in SCA10 reveals unique insight of repeat expansion structurePLoS One201510826295943454667110.1371/journal.pone.01359061:CAS:528:DC%2BC2MXhvFSrur3F Velázquez-PérezLRodríguez-LabradaRCanales-OchoaNMedrano-MonteroJSanchez-CruzGAguilera-RodriguezRProgression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal studyLancet Neurol20141354824892465715310.1016/S1474-4422(14)70027-41:CAS:528:DC%2BC2cXkslSqsLk%3D Baizabal-CarvalloJFXiaGBotrosPLagunaJAshizawaTJankovicJBolivian kindred with combined spinoc J Sequeiros (1109_CR16) 2012; 103 S Tezenas du Montcel (1109_CR36) 2014; 137 JM Laffita-Mesa (1109_CR34) 2012; 20 J Zlotogora (1109_CR126) 2007; 15 LS Sena (1109_CR135) 2019; 18 G Xia (1109_CR118) 2013; 84 M Holmberg (1109_CR72) 1995; 4 EP de Mattos (1109_CR62) 2019; 90 E Alonso (1109_CR24) 2007; 22 J Froment (1109_CR67) 1937; 1937 R Allotey (1109_CR31) 1995; 57 T Almeida (1109_CR14) 2009; 4 VM Borgonio-Cuadra (1109_CR93) 2019; 56 J Sequeiros (1109_CR19) 2010; 18 L Watson (1109_CR80) 2016; 106 FS Pereira (1109_CR37) 2015; 14 R Segal (1109_CR6) 1985 JY Kim (1109_CR81) 2001; 12 CR Hernandez-Castillo (1109_CR91) 2018; 20 O Ross (1109_CR18) 2011; 20 O Escalona-Rayo (1109_CR95) 2017; 43 GN Souza (1109_CR56) 2017; 212–213 G Stevanin (1109_CR77) 1999; 7 GA Garden (1109_CR66) 2008; 7 1109_CR119 VE Emmel (1109_CR46) 2011; 79 G David (1109_CR63) 1998; 7 B Trikamji (1109_CR109) 2015; 18 LB Jardim (1109_CR41) 2001; 58 A Chirino (1109_CR90) 2018; 48 ML Moseley (1109_CR75) 1998; 51 Y Trottier (1109_CR69) 1995; 378 L Jardim (1109_CR45) 2003; 107 RM de Castilhos (1109_CR48) 2014; 13 WA Silva (1109_CR3) 2002; 71 G David (1109_CR73) 1997; 17 EM Ramos (1109_CR137) 2010; 153B C Kieling (1109_CR42) 2007; 72 JF Gusella (1109_CR130) 1983; 306 I Alonso (1109_CR122) 2006; 66 PR Prestes (1109_CR55) 2008; 72 L Leonardi (1109_CR105) 2014; 261 1109_CR128 EP de Mattos (1109_CR61) 2019; 26 JJ Magaña (1109_CR85) 2014; 7 G Auburger (1109_CR22) 1990; 46 C Gaspar (1109_CR58) 2001; 68 KC Donis (1109_CR44) 2016; 17 G da Silva Carvalho (1109_CR50) 2016; 15 KN McFarland (1109_CR120) 2015; 10 L Velázquez-Pérez (1109_CR8) 2009; 454 1109_CR57 S Pulst (1109_CR35) 2005; 128 A Gomez-Coello (1109_CR87) 2017; 31 J Jonasson (1109_CR82) 2000; 8 JJ Magaña (1109_CR12) 2013; 12 HA Teive (1109_CR104) 2015; 73 LB Jardim (1109_CR43) 2007; 9 T Li (1109_CR60) 2019; 9 AE Harding (1109_CR68) 1993; 61 A Durr (1109_CR21) 2010; 9 H Jacobi (1109_CR38) 2013; 12 JA Saute (1109_CR53) 2015; 358 E Sapp (1109_CR133) 2012; 287 J Wang (1109_CR114) 2011; 36 J Gayan (1109_CR134) 2008; 32 G Nicolas (1109_CR127) 2019; 137 JV Moreno-Mayar (1109_CR4) 2018; 362 T Matsuura (1109_CR100) 2006; 78 CR Hernandez-Castillo (1109_CR89) 2016; 10 JAM Saute (1109_CR54) 2018; 1049 L Zu (1109_CR97) 1999; 64 T Matsuura (1109_CR99) 2000; 26 A Hernandez (1109_CR30) 1995; 25 JJ Magaña (1109_CR13) 2014; 85 K Bushara (1109_CR15) 2013; 8 E Storey (1109_CR76) 2000; 95 M Wakamiya (1109_CR101) 2006; 67 M Atadzhanov (1109_CR78) 2017; 4 L Velázquez-Pérez (1109_CR65) 2015; 16 M White (1109_CR102) 2012; 90 VP Cintra (1109_CR112) 2014; 347 S Raskin (1109_CR123) 2007; 64 CR Hernández-Castillo (1109_CR86) 2013; 28 B Schüle (1109_CR121) 2017; 3 HA Teive (1109_CR103) 2004; 63 CR Hernandez-Castillo (1109_CR88) 2016; 37 I Paradisi (1109_CR28) 2016; 61 AB Tort (1109_CR49) 2005; 351 H Naito (1109_CR117) 2017; 12 H Takano (1109_CR33) 1998; 63 A Brusco (1109_CR27) 2004; 61 A Bryer (1109_CR25) 2003; 216 A Rasmussen (1109_CR98) 2001; 50 A Michalik (1109_CR64) 2004; 12 GC Cardoso (1109_CR129) 2019; 10 Y González-Zaldívar (1109_CR23) 2015; 2 LB Jardim (1109_CR40) 2001; 104 D Reich (1109_CR2) 2012; 488 KN McFarland (1109_CR113) 2014; 15 JF Baizabal-Carvallo (1109_CR107) 2015; 132 T Matsuura (1109_CR96) 1999; 45 EM Gatto (1109_CR108) 2007; 69 L Vallés (1109_CR29) 1978; 27 P Elliot (1109_CR125) 2001; 164 DC Smith (1109_CR83) 2015; 354 Huntington’s Disease Collaborative Research Group (1109_CR131) 1993; 72 Y Torres-Ramos (1109_CR92) 2018; 17 K Wang (1109_CR116) 2015; 1 MS Pulst (1109_CR17) 1996; 14 C Posth (1109_CR110) 2018; 175 AM de Assis (1109_CR51) 2017; 8 A Karam (1109_CR74) 2018; 1049 A Benomar (1109_CR70) 1995; 10 JA Saute (1109_CR52) 2014; 29 J Laffita-Mesa (1109_CR32) 2008 T Nenguke (1109_CR132) 2003; 12 AM Saute (1109_CR39) 2015; 3 S Martins (1109_CR59) 2007; 64 PB Azevedo (1109_CR79) 2019; 18 M Faruq (1109_CR136) 2017; 81 GN Souza (1109_CR11) 2016; 90 GB Bampi (1109_CR106) 2017; 19 M Faruq (1109_CR26) 2009; 30 H Jiang (1109_CR115) 2005; 118 H Guio (1109_CR111) 2018; 6 1109_CR1 1109_CR7 1109_CR5 LC Velázquez-Pérez (1109_CR9) 2017; 8 K Tercero-Pérez (1109_CR94) 2019; 18 LB Jardim (1109_CR10) 2001; 248 M Siebert (1109_CR47) 2012; 18 L Velázquez-Pérez (1109_CR20) 2014; 13 KN McFarland (1109_CR124) 2013; 21 1109_CR84 LG Gouw (1109_CR71) 1995; 10 |
| References_xml | – reference: Tercero-PérezKCortésHTorres-RamosYRodríguez-LabradaRCerecedo-ZapataCMHernández-HernándezOEffects of physical rehabilitation in patients with spinocerebellar ataxia type 7Cerebellum.20191833974053070140010.1007/s12311-019-1006-1 – reference: MatsuuraTYamagataTBurgessDLRasmussenAGrewalRPWataseKKhajaviMMcCallADavisCFZuLAchariMPulstSMAlonsoENoebelsJLNelsonDLZoghbiHYAshizawaTLarge expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10Nat Genet20002621911941:CAS:528:DC%2BD3cXntlGms7s%3D1101707510.1038/79911 – reference: RossORutherfordNBakerMSoto-OrtolazaAICarrasquilloMMDeJesus-HernandezMAdamsonJLiMVolkeningKFingerESeeleyWWHatanpaaKJLomen-HoerthCKerteszABigioEHLippaCWoodruffBKKnopmanDSWhiteCL3rdvan GerpenJMeschiaJFMackenzieIRBoylanKBoeveBFMillerBLStrongMJUittiRJYounkinSGGraff-RadfordNRPetersenRCWszolekZKDicksonDWRademakersRAtaxin-2 repeat-length variation and neurodegenerationHum Mol Genet201120320732121:CAS:528:DC%2BC3MXpt1Ohtbs%3D21610160314082310.1093/hmg/ddr227 – reference: PrestesPRSaraiva-PereiraMLSilveiraISequeirosJJardimLBMachado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general populationAnn Hum Genet200872Pt 157641:STN:280:DC%2BD1c%2Fhs1Oqtg%3D%3D17683516 – reference: SappEValenciaALiXAroninNKegelKBVonsattelJPYoungABWexlerNDiFigliaMNative mutant huntingtin in human brain: evidence for prevalence of full-length monomerJ Biol Chem20122871613487134991:CAS:528:DC%2BC38XlsFChtLk%3D22375012333999610.1074/jbc.M111.286609 – reference: MagañaJJTapia-GuerreroYSVelázquez-PérezLCruz-MariñoTCerecedo-ZapataCMGómezRMurillo-MeloNMGonzález-PiñaRHernández-HernándezOCisnerosBClinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case reportInt J Clin Exp Med201471258965903256641294307576 – reference: MatsuuraTFangPPearsonCEJayakarPAshizawaTRoaBBNelsonDLInterruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?Am J Hum Genet20067811251291:CAS:528:DC%2BD28XhslKrsQ%3D%3D1638545510.1086/498654 – reference: ZuLFigueroaKPGrewalRPulstSMMapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22Am J Hum Genet19996425945991:CAS:528:DyaK1MXhslOltbk%3D9973298137777010.1086/302247 – reference: MoseleyMLBenzowKAShutLJBirdTDGomezCMBarkhausPEIncidence of dominant spinocerebellar and Friedreich triplet repeats among 361 familiesNeurology.1998516166616711:CAS:528:DyaK1MXhsVOmsA%3D%3D985552010.1212/WNL.51.6.1666 – reference: CardosoGCde OliveiraMZPaixão-CôrtesVRCastillaEESchuler-FacciniLClusters of genetic diseases in BrazilJ Community Genet20191011211282986064510.1007/s12687-018-0369-1 – reference: WangKMcFarlandKNLiuJZengDLandrianIXiaGHaoYJinMMulliganCJGuWAshizawaTSpinocerebellar ataxia type 10 in Chinese HanNeurol Genet201513e2627066563480945910.1212/NXG.0000000000000026 – reference: WakamiyaMMatsuuraTLiuYSchusterGCGaoRXuWThe role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10Neurology.20066746076131:CAS:528:DC%2BD28XnvVynsL4%3D1692401310.1212/01.wnl.0000231140.26253.eb – reference: Ayhan F, Ikeda Y, Dalton JC, Day JW, Ranum LPW. Spinocerebellar Ataxia Type 8. 2001 Nov 27 [updated 2014 Apr 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK1268/. Accessed 18 Jan. 2020 – reference: BampiGBBisso-MachadoRHünemeierTGhenoTCFurtadoGVVeliz-OtaniDHaplotype study in SCA10 families provides further evidence for a common ancestral origin of the mutationNeuroMolecular Med20171945015091:CAS:528:DC%2BC2sXhsV2isLjF2890522010.1007/s12017-017-8464-8 – reference: Laffita-MesaJMVelázquez-PérezLCSantos FalcónNCruz-MariñoTGonzález ZaldívarYVázquez MojenaYAlmaguer-GotayDAlmaguer MederosLERodríguez LabradaRUnexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 allelesEur J Hum Genet201220141491:CAS:528:DC%2BC3MXhs1Sisb3O2193471110.1038/ejhg.2011.154 – reference: McFarlandKNLiuJLandrianIZengDRaskinSMoscovichMGattoEMOchoaATeiveHARasmussenAAshizawaTRepeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizuresNeurogenetics.201415159642431842010.1007/s10048-013-0385-6 – reference: de MattosEPKolbe MusskopfMBielefeldt LeottiVSaraiva-PereiraMLJardimLBGenetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysisJ Neurol Neurosurg Psychiatry20199022032103033744210.1136/jnnp-2018-319200 – reference: HardingAEClinical features and classification of inherited ataxiasAdv Neurol1993611141:STN:280:DyaK3s7jsFSnuw%3D%3D8421960 – reference: González-ZaldívarYVázquez-MojenaYLaffita-MesaJMAlmaguer-MederosLERodríguez-LabradaRSánchez-CruzGEpidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph diseaseCerebellum Ataxias20152126331044455209910.1186/s40673-015-0020-4 – reference: JardimLBPereiraMLSilveiraIFerroASequeirosJGiuglianiRNeurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)nArch Neurol20015868999041:STN:280:DC%2BD3MzntlKgsw%3D%3D1140580410.1001/archneur.58.6.899 – reference: JiangHTangBSXuBZhaoGHShenLTangJGLiQHXiaKFrequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6Chin Med J2005118108378431:CAS:528:DC%2BD2MXlslGlsrY%3D15989765 – reference: AtadzhanovMSmithDCMwabaMHSiddiqiOKBryerAGreenbergLJClinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian familiesCerebellum Ataxias201741729214039570639810.1186/s40673-017-0075-5 – reference: McFarlandKNLiuJLandrianIGodiskaRShankerSYuFFarmerieWGAshizawaTSMRT sequencing of long tandem nucleotide repeats in SCA10 reveals unique insight of repeat expansion structurePLoS One201510826295943454667110.1371/journal.pone.01359061:CAS:528:DC%2BC2MXhvFSrur3F – reference: GasparCLopes-CendesIHayesSGotoJArvidssonKDiasASilveiraIMacielPCoutinhoPLimaMZhouYXSoongBWWatanabeMGiuntiPStevaninGRiessOSasakiHHsiehMNicholsonGABruntEHigginsJJLauritzenMTranebjaergLVolpiniVWoodNRanumLTsujiSBriceASequeirosJRouleauGAAncestral origins of the Machado-Joseph disease mutation: a worldwide haplotype studyAm J Hum Genet20016825235281:STN:280:DC%2BD3M7ktlelsA%3D%3D1113335710.1086/318184 – reference: MagañaJJTapia-GuerreroYSVelázquez-PérezLCerecedo-ZapataCMMaldonado-RodríguezMJano-ItoJSLeyva-GarcíaNGonzález-PiñaRMartínez-CruzEHernández-HernándezOCisnerosBAnalysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effectClin Genet20148521591652336852210.1111/cge.121141:CAS:528:DC%2BC2cXptFahsA%3D%3D – reference: NicolasGVeltmanJAThe role of de novo mutations in adult-onset neurodegenerative disordersActa Neuropathol20191371832071:CAS:528:DC%2BC1cXitlClsr%2FO3047862410.1007/s00401-018-1939-3 – reference: MartinsSCalafellFGasparCWongVCSilveiraINicholsonGABruntERTranebjaergLStevaninGHsiehMSoongBWLoureiroLDürrATsujiSWatanabeMJardimLBGiuntiPRiessORanumLPBriceARouleauGACoutinhoPAmorimASequeirosJAsian origin for the worldwide-spread mutational event in Machado-Joseph diseaseArch Neurol20076410150215081792363410.1001/archneur.64.10.1502 – reference: BenomarAKrolsLStevaninGCancelGLe GuernEDavidGThe gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1Nat Genet19951084881:CAS:528:DyaK2MXlsVymtrg%3D764779810.1038/ng0595-84 – reference: BryerAKrauseABillPDavidsVBryantDButlerJHeckmannJRamesarRGreenbergJThe hereditary adult-onset ataxias in South AfricaJ Neurol Sci200321647541460730210.1016/S0022-510X(03)00209-0 – reference: JacobiHReetzKdu MontcelSTBauerPMariottiCNanettiLRakowiczMSulekADurrACharlesPFillaAAntenoraASchölsLSchicksJInfanteJKangJSTimmannDdi FabioRMasciulloMBalikoLMeleghBBoeschSBürkKPeltzASchulzJBDufaure-GaréIKlockgetherTBiological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline dataLancet Neurol20131276506582370714710.1016/S1474-4422(13)70104-2 – reference: GayanJBrocklebankDAndresenJMAlkorta-Aranburu G; US-Venezuela collaborative research group, Zameel Cader M, et al. Genomewide linkage scan reveals novel loci modifying age of onset of Huntington’s disease in the Venezuelan HD kindredsGenet Epidemiol20083254454531848179510.1002/gepi.20317 – reference: ReichDPattersonNCampbellDTandonAMazieresSRayNParraMVRojasWDuqueCMesaNGarcíaLFTrianaOBlairSMaestreADibJCBraviCMBaillietGCorachDHünemeierTBortoliniMCSalzanoFMPetzl-ErlerMLAcuña-AlonzoVAguilar-SalinasCCanizales-QuinterosSTusié-LunaTRibaLRodríguez-CruzMLopez-AlarcónMCoral-VazquezRCanto-CetinaTSilva-ZolezziIFernandez-LopezJCContrerasAVJimenez-SanchezGGómez-VázquezMJMolinaJCarracedoASalasAGalloCPolettiGWitonskyDBAlkorta-AranburuGSukernikRIOsipovaLFedorovaSAVasquezRVillenaMMoreauCBarrantesRPaulsDExcoffierLBedoyaGRothhammerFDugoujonJMLarrouyGKlitzWLabudaDKiddJKiddKdi RienzoAFreimerNBPriceALRuiz-LinaresAReconstructing native American population historyNature.201248874113703741:CAS:528:DC%2BC38XhtFWjsbjN22801491361571010.1038/nature11258 – reference: HolmbergMJohanssonJForsgrenLHeijbelJSandgrenOHolmgrenGLocalization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12–p21.1Hum Mol Genet19954144114451:CAS:528:DyaK2MXnt1alt7g%3D758138610.1093/hmg/4.8.1441 – reference: Hernandez-CastilloCRGalvezVDiazRFernandez-RuizJSpecific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7Brain Imaging Behav20161012522572591787210.1007/s11682-015-9389-1 – reference: Torres-RamosYMontoya-EstradaACisnerosBTercero-PérezKLeón-ReyesGLeyva-GarcíaNHernández-HernándezOMagañaJJOxidative stress in spinocerebellar ataxia type 7 is associated with disease severityCerebellum.20181756016091:CAS:528:DC%2BC1cXhtFeqsbvF2987680310.1007/s12311-018-0947-0 – reference: WatsonLSmithDCScholefieldJBalloRKidsonSGreenbergLJWoodMJSpinocerebellar ataxia type 7 in South Africa: epidemiology, pathogenesis and therapyS Afr Med J2016106S107S1091:STN:280:DC%2BC2s%2FlsFGrtg%3D%3D2724554210.7196/SAMJ.2016.v106i6.11010 – reference: McFarlandKNLiuJLandrianIGaoRSarkarPSRaskinSMoscovichMGattoEMTeiveHAOchoaARasmussenAAshizawaTParadoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instabilityEur J Hum Genet20132111127212761:CAS:528:DC%2BC3sXhsVCqtbzN23443018379883910.1038/ejhg.2013.32 – reference: AlonsoEMartínez-RuanoLDe BiaseIMaderCOchoaAYescasPDistinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican populationMov Disord2007227105010531742793810.1002/mds.21470 – reference: de AssisAMSauteJAMLongoniAHaasCBTorrezVRBrochierAWPeripheral oxidative stress biomarkers in spinocerebellar ataxia type 3/Machado-Joseph diseaseFront Neurol2017848528979235561139010.3389/fneur.2017.00485 – reference: Bittles AH. Consanguinity, genetic drift, and genetic diseases in populations with reduced numbers of founders. In: Speicher M, Antonarakis SE, Motulsky AG. (Eds.). Vogel and Motulsky's human genetics. Problems and Approaches. Springer-Verlag Berlin Heidelberg, 2010, p. 507. – reference: PulstMSNechiporukANechiporukTGispertSChenXNLopes-CendesIModerate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nat Genet1996142692761:CAS:528:DyaK28XntVClsb8%3D889655510.1038/ng1196-269 – reference: MatsuuraTAchariMKhajaviMBachinskiLLZoghbiHYAshizawaTMapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsyAnn Neurol19994534074111:CAS:528:DyaK1MXitVSnsL0%3D1007206010.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D – reference: JardimLBSilveiraIPereiraMLFerroAAlonsoIDo Céu MoreiraMA survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutationsJ Neurol2001248108708761:STN:280:DC%2BD3MnksFSqtg%3D%3D1169752410.1007/s004150170072 – reference: RamosEMMartinsSAlonsoIEmmelVESaraiva-PereiraMLJardimLBCoutinhoPSequeirosJSilveiraICommon origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)Am J Med Genet B Neuropsychiatr Genet2010153B25245311:CAS:528:DC%2BC3cXktF2ns78%3D1967610210.1002/ajmg.b.31013 – reference: KielingCPrestesPRSaraiva-PereiraMLJardimLBSurvival estimates for patients with Machado-Joseph disease (SCA3)Clin Genet20077265435451:STN:280:DC%2BD2snnsFegsA%3D%3D1789483410.1111/j.1399-0004.2007.00910.x – reference: Escalona-RayoOFuentes-VázquezPLeyva-GómezGCisnerosBVillalobosRMagañaJJQuintanar-GuerreroDNanoparticulate strategies for the treatment of polyglutamine diseases by halting the protein aggregation processDrug Dev Ind Pharm20174368718881:CAS:528:DC%2BC2sXit1WgtLw%3D2814229010.1080/03639045.2017.1281949 – reference: FaruqMMagañaJJSuroliyaVNarangAMurillo-MeloNMHernández-HernándezOSrivastavaAKMukerjiMA complete association of an intronic SNP rs6798742 with origin of spinocerebellar ataxia type 7-CAG expansion loci in the Indian and Mexican populationAnn Hum Genet20178151972041:CAS:528:DC%2BC2sXhtlWntrbI2859791010.1111/ahg.12200 – reference: SauteJAde CastilhosRMMonteTLSchumacher-SchuhAFDonisKCD'ÁvilaRSouzaGNRussoADFurtadoGVGhenoTCde SouzaDOPortelaLVSaraiva-PereiraMLCameySATormanVBde Mello RiederCRJardimLBA randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph diseaseMov Disord20142945685731:CAS:528:DC%2BC2cXlvFSmtLo%3D2439964710.1002/mds.25803 – reference: AlonsoIJardimLBArtigalasOSaraiva-PereiraMLMatsuuraTAshizawaTSequeirosJSilveiraIReduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10Neurology.20066610160216041:STN:280:DC%2BD283ovVKntw%3D%3D1671723610.1212/01.wnl.0000216266.30177.bb – reference: SegalRThe black diaspora: five centuries of the black experience outside Africa1985New YorkFarrar, Straus and Giroux – reference: TortABPortelaLVRockenbachICMonteTLPereiraMLSouzaDOS100B and NSE serum concentrations in Machado Joseph diseaseClin Chim Acta20053511–21431481:CAS:528:DC%2BD2cXhtVant73L1556388310.1016/j.cccn.2004.08.010 – reference: SchüleBMcFarlandKNLeeKTsaiYCNguyenKDSunCParkinson's disease associated with pure ATXN10 repeat expansionNPJ Parkinsons Dis201732728890930558540310.1038/s41531-017-0029-x – reference: BusharaKBowerMLiuJMcFarlandKNLandrianIHutterDTeiveHARasmussenAMulliganCJAshizawaTExpansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestryPLoS One2013811e8134224278426383568710.1371/journal.pone.00813421:CAS:528:DC%2BC2cXjtlOlsg%3D%3D – reference: FaruqMScariaVSinghITyagiSSrivastavaAKMukerjiMSCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxiasHum Mutat200930103710421:CAS:528:DC%2BD1MXptlSjt7w%3D1937076910.1002/humu.21006 – reference: JardimLSilveiraIPereiraMLDo Céu MoreiraMMendonçaPSequeirosJSearching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotypeActa Neurol Scand200310732112141:CAS:528:DC%2BD3sXjtVCgs7w%3D1261431510.1034/j.1600-0404.2003.00046.x – reference: AuburgerGDiazGOCapoteRFSanchezSGPérezMPdel CuetoMEAutosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect populationAm J Hum Genet1990466116311771:STN:280:DyaK3c3lt1yjtA%3D%3D19711521683834 – reference: NengukeTAladjemMIGusellaJFWexlerNSArnheim N; Venezuela HD project. Candidate DNA replication initiation regions at human trinucleotide repeat disease lociHum Mol Genet2003129102110281:CAS:528:DC%2BD3sXkt1Kku7k%3D1270017010.1093/hmg/ddg111 – reference: SilvaWABonattoSLHolandaAJRibeiro-Dos-SantosAKPaixaoBMMitochondrial genome diversity of Native Americans supports a single early entry of founder populations into AmericaAm J Hum Genet2002711871921:CAS:528:DC%2BD38Xlt1Krtr0%3D1202203910.1086/341358 – reference: Tezenas du MontcelSDurrABauerPFigueroaKPIchikawaYBrussinoAModulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesBrain20141372444245524972706413264610.1093/brain/awu174 – reference: Velázquez-PérezLRodríguez-LabradaRCanales-OchoaNMedrano-MonteroJSanchez-CruzGAguilera-RodriguezRProgression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal studyLancet Neurol20141354824892465715310.1016/S1474-4422(14)70027-41:CAS:528:DC%2BC2cXkslSqsLk%3D – reference: JardimLBPereiraMLSilveiraIFerroASequeirosJGiuglianiRMachado–Joseph disease in South Brazil: clinical and molecular characterization of kindredsActa Neurol Scand20011042242311:CAS:528:DC%2BD3MXnsFWls78%3D1158965110.1034/j.1600-0404.2001.00020.x – reference: RasmussenAMatsuuraTRuanoLYescasPOchoaAAshizawaTAlonsoEClinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10Ann Neurol20015022342391:CAS:528:DC%2BD3MXmsVOksbY%3D1150640710.1002/ana.1081 – reference: WangJShenLLeiLXuQZhouJLiuYGuanWPanQXiaKTangBJiangHSpinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic casesZhong Nan Da Xue Xue Bao Yi Xue Ban201136648248921743138 – reference: Demard JC. Émigration française au Mexique: 1, Les communautÉs agricoles (1828–1900). 1st edn. Dominique GuÉniot, Éditeur. Langres; 1995. p. 91. – reference: StoreyEdu SartDShawJHLorentzosPKellyLMcKinley GardnerRJFrequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxiaAm J Med Genet2000953513571:STN:280:DC%2BD3M7it1Grsw%3D%3D1118688910.1002/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R – reference: Huntington’s Disease Collaborative Research GroupA novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomesCell.199372697198310.1016/0092-8674(93)90585-E – reference: NaitoHTakahashiTKamadaMMorinoHYoshinoHHattoriNMaruyamaHKawakamiHMatsumotoMFirst report of a Japanese family with spinocerebellar ataxia type 10: the second report from Asia after a report from ChinaPLoS One2017125e017795528542277543817210.1371/journal.pone.01779551:CAS:528:DC%2BC2sXhsFyjsLrJ – reference: Velázquez-PérezLCerecedo-ZapataCMHernandez-HernandezOMartinez-CruzETapia-GuerreroYSGonzalez-PinaRA comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7Neurogenetics.201516111212531844610.1007/s10048-014-0424-y1:CAS:528:DC%2BC2cXhvVent7rM – reference: JardimLBHauserLKielingCSauteJAXavierRRiederCRProgression rate of neurological deficits in a 10-year cohort of SCA3 patientsCerebellum.20079341942810.1007/s12311-010-0179-4 – reference: VallésLEstradaGLBastecherreaSLAlgunas formas de heredoataxia en una región de CubaRev Neurol (Cubana)197827163176 – reference: EmmelVEAlonsoIJardimLBSaraiva-PereiraMLSequeirosJDoes DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?Clin Genet20117911001021:STN:280:DC%2BC3M%2FjvFahsQ%3D%3D2114347110.1111/j.1399-0004.2010.01508.x – reference: SauteJAMJardimLBPlanning future clinical trials for Machado-Joseph diseaseAdv Exp Med Biol201810493213481:CAS:528:DC%2BC1cXitFClsL%2FP2942711210.1007/978-3-319-71779-1_17 – reference: ZlotogoraJMultiple mutations responsible for frequent genetic diseases in isolated populationsEur J Hum Genet20071532722781:CAS:528:DC%2BD2sXhvF2isrY%3D1721384010.1038/sj.ejhg.5201760 – reference: SenaLSCastilhosRMMattosEPFurtadoGVPedrosoJLBarsottiniOde AmorimMMPGodeiroCSaraiva-PereiraMLPereiraMLSJardimLBSelective forces related to spinocerebellar ataxia type 2Cerebellum.20191821881941:CAS:528:DC%2BC1cXhslCjs7bM3021997610.1007/s12311-018-0977-7 – reference: AzevedoPBRochaAGKeimLMNLavinskyDFurtadoGVDe MattosEPOphthalmological and neurologic manifestations in pre-clinical and clinical phases of spinocerebellar ataxia type 7Cerebellum.20191833883961:CAS:528:DC%2BC1MXhtVCjtL7J3063767410.1007/s12311-019-1004-3 – reference: TeiveHARoaBBRaskinSFangPArrudaWONetoYCClinical phenotype of Brazilian families with spinocerebellar ataxia 10Neurology.2004638150915121:STN:280:DC%2BD2crjsVCgsQ%3D%3D1550517810.1212/01.WNL.0000142109.62056.57 – reference: Velázquez-PérezLCRodríguez-LabradaRFernandez-RuizJSpinocerebellar Ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approachesFront Neurol2017847228955296560197810.3389/fneur.2017.00472 – reference: SmithDCAtadzhanovMMwabaMGreenberjLJEvidence of common founder effect amongst South Africa and Zambian individuals with spinocerebellar ataxia type 7J Neurol Sci20153541–275782600322410.1016/j.jns.2015.04.053 – reference: da Silva CarvalhoGSauteJAHaasCBTorrezVRBrochierAWSouzaGNCytokines in Machado Joseph disease/spinocerebellar ataxia 3Cerebellum.20161545185252639590810.1007/s12311-015-0719-z1:CAS:528:DC%2BC2MXhsFGqsrbM – reference: TakanoHCancelGIkeuchiTLorenzettiDMawadRStevaninGDidierjeanODürrAOyakeMShimohataTSasakiRKoideRIgarashiSHayashiSTakiyamaYNishizawaMTanakaHZoghbiHBriceATsujiSClose associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populationsAm J Hum Genet199863106010661:CAS:528:DyaK1cXntlCkurY%3D9758625137749910.1086/302067 – reference: KimJYParkSSJooSIKimJMJeonBSMolecular analysis of spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6 and SCA7Mol Cell20011233363411:CAS:528:DC%2BD38XjtlemtA%3D%3D – reference: MagañaJJGómezRMaldonado-RodríguezMVelázquez-PérezLTapia-GuerreroYSCortésHLeyva-GarcíaNHernández-HernándezOCisnerosBOrigin of the spinocerebellar ataxia type 7 gene mutation in Mexican populationCerebellum.20131269029052382802410.1007/s12311-013-0505-81:CAS:528:DC%2BC3sXhs1Krs77L – reference: Laffita-MesaJVelazquez-PérezLGenetics and molecular investigations on SCA2: from genetic predisposition to genetic and epigenetic modifying mechanisms acting in a very frequent disease in HolguínIII International Symposium of Hereditary Ataxias2008CubaHolguín – reference: DonisKCSauteJAKrum-SantosACFurtadoGVMattosEPSaraiva-PereiraMLTormanVLJardimLBSpinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescenceNeurogenetics.20161721071132678033910.1007/s10048-016-0473-5 – reference: DavidGAbbasNStevaninGDurrAYvertGCancelGCloning of the SCA7 gene reveals a highly unstable CAG repeat expansionNat Genet19971765701:CAS:528:DyaK2sXlvVGhsbo%3D928809910.1038/ng0997-65 – reference: Velázquez-PérezLCruzGSSantos FalconNEnrique Almaguer MederosLEscalona BatallanKRodríguez LabradaRMolecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in HolguinNeurosci Lett.200945421571601942907510.1016/j.neulet.2009.03.0151:CAS:528:DC%2BD1MXjslOgtbc%3D – reference: GouwLGKaplanCDHainesJHDigreKBRutledgeSLMatillaALeppertMZoghbiHYPtácekLJRetinal degeneration characterizes a spinocerebellar ataxia mapping to 147chromosome 3pNat Genet19951089931:CAS:528:DyaK2MXlsVymtrk%3D764779910.1038/ng0595-89 – reference: TrottierYLutzYStevaninGImbertGDevysDCancelGSaudouFWeberCDavidGToraLPolyglutamine expansion as a pathological epitope in Huntington’s disease and four dominant cerebellar ataxiasNature.19953784034061:CAS:528:DyaK2MXps1ams7Y%3D747737910.1038/378403a0 – reference: TeiveHAMoroAMoscovichMArrudaWOMunhozRPRaskinSTeiveGMDallabridaNAshizawaTSpinocerebellar ataxia type 10 in the south of Brazil: the Amerindian-Belgian connectionArq Neuropsiquiatr201573872572726222367467056410.1590/0004-282X20150086 – reference: ElliotPWakefieldJDisease clusters: should they be investigated, and, if so, when and how?J R Statist Soc A2001164131210.1111/1467-985X.00180 – reference: Hernandez-CastilloCRKingMDiedrichsenJFernandez-RuizJUnique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7NeuroImage Clin20182093193830308379617819310.1016/j.nicl.2018.09.026 – reference: CintraVPLourençoCMMarquesSEde OliveiraLMTumasVMarquesWJrMutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxiaJ Neurol Sci20143471–23753792546669610.1016/j.jns.2014.10.036 – reference: BruscoAGelleraCCagnoliCSalutoACastucciAMichielottoCFetoniVMariottiCMigoneNdi DonatoSTaroniFMolecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian familiesArch Neurol2004617277331514815110.1001/archneur.61.5.727 – reference: ChirinoAHernandez-CastilloCRGalvezVContrerasADiazRBeltran-ParrazalLFernandez-RuizJMotor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumesEur J Neurosci20184810319932113025596210.1111/ejn.14148 – reference: RaskinSAshizawaTTeiveHAArrudaWOFangPGaoRReduced penetrance in a Brazilian family with spinocerebellar ataxia type 10Arch Neurol20076445915941742032310.1001/archneur.64.4.591 – reference: Borgonio-CuadraVMValdes-VargasCRomero-CórdobaSHiodalgo-MirandaATapia-GuerreroYCerecedo-ZapataCMWide profiling of circulating MicroRNAs in spinocerebellar ataxia type 7Mol Neurobiol2019569610661201:CAS:528:DC%2BC1MXmt1ygurg%3D3072144810.1007/s12035-019-1480-y – reference: TrikamjiBSinghPMishraSSpinocerebellar ataxia-10 with paranoid schizophreniaAnn Indian Acad Neurol20151819395257453224350226 – reference: SequeirosJSenecaSMartindaleJConsensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxiasEur J Hum Genet201018111188119520179748298748010.1038/ejhg.2010.10 – reference: GusellaJFWexlerNSConneallyPMNaylorSLAndersonMATanziREWatkinsPCOttinaKWallaceMRSakaguchiAYA polymorphic DNA marker genetically linked to Huntington’s diseaseNature.198330659402342381:CAS:528:DyaL2cXhvVKrsA%3D%3D631614610.1038/306234a0 – reference: PereiraFSMonteTLLocks-CoelhoLDSilvaASBarsottiniOPedrosoJLATXN3, ATXN7, CACNA1A, and RAI1 genes and mitochondrial polymorphism A10398G did not modify age at onset in spinocerebellar Ataxia type 2 patients from South AmericaCerebellum.20151467287302586992610.1007/s12311-015-0666-8 – reference: LiTMartinsSPengYWangPHouXChenZIs the high frequency of Machado-Joseph disease in China due to new mutational origins?Front Genet2019974030842792639131810.3389/fgene.2018.007401:CAS:528:DC%2BC1MXhtlWnu7jM – reference: Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, et al. Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism Relat Disord. 2019. https://doi.org/10.1016/j.parkreldis.2019.08.011inpress. – reference: AlmeidaTAlonsoIMartinsSRamosEMAzevedoLOhnoKAmorimASaraiva-PereiraMLJardimLBMatsuuraTSequeirosJSilveiraIAncestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)PLoS One200942e455319234597263964410.1371/journal.pone.00045531:CAS:528:DC%2BD1MXis1Kmsr8%3D – reference: AlloteyRTwellsRCemalCNorteBSWeissenbachJPookMThe spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23–24.1Am J Hum Genet1995571851891:STN:280:DyaK2MzjsFKksA%3D%3D76112871801228 – reference: Hernandez-CastilloCRVaca-PalomaresIBarriosFMartinezLBollMCFernandez-RuizJAtaxia severity correlates with White matter degeneration in spinocerebellar ataxia type 7AJNR Am J Neuroradiol20163711205020541:STN:280:DC%2BC2szgtlSgtg%3D%3D2751624010.3174/ajnr.A4903 – reference: Forsythe DP. Encyclopedia of Human Rights, Volume 4. Oxford University Press. 2009; p. 297. ISBN 978–0–19-533402-9. – reference: PulstSSantosNWangDYangHHuynhDVelázquezLSpinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onsetBrain.2005128Pt 10229723031600033410.1093/brain/awh586 – reference: Moreno-MayarJVVinnerLde Barros DamgaardPde la FuenteCChanJEarly human dispersals within the AmericasScience20183626419eaav26213040980710.1126/science.aav26211:CAS:528:DC%2BC1cXisVegu7rL – reference: KaramATrottierYMolecular mechanisms and therapeutic strategies in spinocerebellar ataxia type 7Adv Exp Med Biol201810491972181:CAS:528:DC%2BC1cXitFClsLzP2942710410.1007/978-3-319-71779-1_9 – reference: SouzaGNKerstingNKrum-SantosACSantosASFurtadoGVPachecoDGonçalvesTASauteJASchuler-FacciniLMattosEPSaraiva-PereiraMLJardimLBSpinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissionsClin Genet20169021341401:CAS:528:DC%2BC28XhtFCktbbO2669370210.1111/cge.12719 – reference: Piazza WF. A epope ́ia ac ̧o ́rico-madeirense 1748–1756. Florianopolis: Editora da UFSC, 1992. – reference: StevaninGDavidGDurrAGiuntiPBenomarAAbada-BendibMMultiple origins of the spinocerebellar ataxia7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG)Eur J Hum Genet199978898961:CAS:528:DC%2BD3cXnsVKisA%3D%3D1060236410.1038/sj.ejhg.5200392 – reference: SequeirosJMartinsSSilveiraIEpidemiology and population genetics of degenerative ataxiasHandb Clin Neurol20121032272512182789210.1016/B978-0-444-51892-7.00014-0 – reference: Hernández-CastilloCRAlcauterSGalvezVBarriosFABarriosFAYescasPDisruption of visual and motor connectivity in spinocerebellar ataxia type 7Mov Disord20132812170817162392606010.1002/mds.256181:CAS:528:DC%2BC3sXhslWjsLzP – reference: de CastilhosRMFurtadoGVGhenoTCSchaefferPRussoABarsottiniOPedrosoJLSalariniDZVargasFRde LimaMAGodeiroCSantana-da-SilvaLCTorallesMBSantosSvan der Linden H JrWanderleyHYde MedeirosPFPereiraETRibeiroESaraiva-PereiraMLJardimLBRede NeurogeneticaSpinocerebellar ataxias in Brazil--frequencies and modulating effects of related genesCerebellum.201413117281:CAS:528:DC%2BC2cXhtlarsb0%3D2394352010.1007/s12311-013-0510-y – reference: Baizabal-CarvalloJFXiaGBotrosPLagunaJAshizawaTJankovicJBolivian kindred with combined spinocerebellar ataxia types 2 and 10Acta Neurol Scand201513221391421:CAS:528:DC%2BC2MXhtFOjs7rP25630585449628610.1111/ane.12371 – reference: MichalikAMartinJJVan BroeckhovenCSpinocerebellar ataxia type 7 associated with pigmentary retinal dystrophyEur J Hum Genet20041212151:CAS:528:DC%2BD2cXls1Gh1457126410.1038/sj.ejhg.5201108 – reference: SauteJARiederCRCastilhosRMMonteTLSchumacher-SchuhAFDonisKCD'ÁvilaRSouzaGNRussoADFurtadoGVGhenoTCSouzaDOSaraiva-PereiraMLPortelaLVCameySTormanVBJardimLBPlanning future clinical trials in Machado Joseph disease: lessons from a phase 2 trialJ Neurol Sci20153581–272762629764910.1016/j.jns.2015.08.019 – reference: Eltis D. Economic growth and the ending of the transatlantic slave trade: Oxford University Press; 1987. – reference: JonassonJJuvonenVSistonenPIgnatiusJJohanssonDBjorckEJEvidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in ScandinaviaEur J Hum Genet200089189221:CAS:528:DC%2BD3MXht1Squrg%3D1117527910.1038/sj.ejhg.5200557 – reference: ParadisiIIkonomuVAriasSSpinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descentJ Hum Genet20166132152221:CAS:528:DC%2BC28XltVanu7c%3D2653830210.1038/jhg.2015.131 – reference: Gomez-CoelloAValadez-JimenezVMCisnerosBCarrillo-MoraPParra-CardenasMHernandez-HernandezOHernández-HernándezOVoice alterations in patients with spinocerebellar ataxia type 7 (SCA7): clinical-genetic correlationsJ Voice2017311123:e1123:e510.1016/j.jvoice.2016.01.010 – reference: XiaGMcFarlandKNWangKSarkarPSYachnisATAshizawaTPurkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10J Neurol Neurosurg Psychiatry201384121409141123813740392357610.1136/jnnp-2013-305080 – reference: FromentJBonnetPColratAHeredo-degenerations retinienne et spino-cerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successivesJ Med Lyon19371937153163 – reference: LeonardiLMarcotulliCMcFarlandKNTessaADiFabioRSantorelliFMSpinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the diseaseJ Neurol201426191691169424935856422124610.1007/s00415-014-7394-8 – reference: PosthCNakatsukaNLazaridisISkoglundPMallickSLamnidisTCReconstructing the deep population history of Central and South AmericaCell2018175511851197.e221:CAS:528:DC%2BC1cXitFCgsbzN30415837632724710.1016/j.cell.2018.10.027 – reference: HernandezAMagarinoCGispertSSantosNLunkesAOrozcoGGenetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1Genomics.1995254334351:CAS:528:DyaK2MXjvV2hsro%3D778997610.1016/0888-7543(95)80043-L – reference: SauteAMJardimLBMachado–Joseph disease: clinical and genetic aspects, and current treatmentExpert, Opin, Orphan2015351753510.1517/21678707.2015.1025747 – reference: DurrAAutosomal dominant cerebellar ataxias: polyglutamine expansions and beyondLancet Neurol2010998858941:CAS:528:DC%2BC3cXhtVersbbK2072384510.1016/S1474-4422(10)70183-6 – reference: SiebertMDonisKCSocalMRiederCREmmelVEVairoFMichelin-TirelliKFrança M JrD'AbreuACBettencourtCLimaMLopes CendesISaraiva-PereiraMLJardimLBGlucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3Parkinsonism Relat Disord20121821851901:STN:280:DC%2BC387nsVOhtQ%3D%3D2200171110.1016/j.parkreldis.2011.09.024 – reference: GardenGALa SpadaARMolecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegenerationCerebellum.2008721381491:CAS:528:DC%2BD1cXhsVyms7%2FM18418675419558410.1007/s12311-008-0027-y – reference: GattoEMGaoRWhiteMCUribe RocaMCEtcheverryJLPersiGPoderosoJJAshizawaTEthnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 familyNeurology.20076922162181:STN:280:DC%2BD2svgt1Onsg%3D%3D1762055610.1212/01.wnl.0000265596.72492.89 – reference: SouzaGNKerstingNGonçalvesTAPachecoDLOSaraiva-PereiraMLCameySACancer in Machado-Joseph disease patients-low frequency as a cause of deathCancer Gene Ther2017212–213192310.1016/j.cancergen.2017.03.008 – reference: DavidGDurrAStevaninGCancelGAbbasNBenomarAMolecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)Hum Mol Genet199871651701:CAS:528:DyaK1cXpvFSmtA%3D%3D942522210.1093/hmg/7.2.165 – reference: de MattosEPLeottiVBSoongBWRaposoMLimaMVasconcelosJFussigerHSouzaGNKerstingNFurtadoGVSauteJAMCameySASaraiva-PereiraMLJardimLBAge at onset prediction in spinocerebellar ataxia type 3 changes according to population of originEur J Neurol20192611131203012543310.1111/ene.13779 – reference: WhiteMXiaGGaoRWakamiyaMSarkarPSMcFarlandKAshizawaTTransgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function modelJ Neurosci Res20129037067141:CAS:528:DC%2BC3MXhsVagurzI2206556510.1002/jnr.22786 – reference: GuioHPotericoJALevanoKSCornejo-OlivasMMazzettiPManassero-MoralesGUgarte-GilMFAcevedo-VásquezEDueñas-RoqueMPiscoyaAFujitaRSanchezCCasavilca-ZambranoSJaramillo-ValverdeLSullcahuaman-AllendeYIglesias-PedrazJMAbarca-BarrigaHGenetics and genomics in Peru: clinical and research perspectiveMol Genet Genomic Med20186687388630584990630565510.1002/mgg3.533 – volume: 71 start-page: 187 year: 2002 ident: 1109_CR3 publication-title: Am J Hum Genet doi: 10.1086/341358 – volume: 17 start-page: 601 issue: 5 year: 2018 ident: 1109_CR92 publication-title: Cerebellum. doi: 10.1007/s12311-018-0947-0 – volume: 25 start-page: 433 year: 1995 ident: 1109_CR30 publication-title: Genomics. doi: 10.1016/0888-7543(95)80043-L – volume: 488 start-page: 370 issue: 7411 year: 2012 ident: 1109_CR2 publication-title: Nature. doi: 10.1038/nature11258 – volume: 4 start-page: 17 year: 2017 ident: 1109_CR78 publication-title: Cerebellum Ataxias doi: 10.1186/s40673-017-0075-5 – volume: 12 start-page: e0177955 issue: 5 year: 2017 ident: 1109_CR117 publication-title: PLoS One doi: 10.1371/journal.pone.0177955 – volume: 56 start-page: 6106 issue: 9 year: 2019 ident: 1109_CR93 publication-title: Mol Neurobiol doi: 10.1007/s12035-019-1480-y – volume: 26 start-page: 191 issue: 2 year: 2000 ident: 1109_CR99 publication-title: Nat Genet doi: 10.1038/79911 – ident: 1109_CR119 doi: 10.1016/j.parkreldis.2019.08.011inpress – volume: 362 start-page: eaav2621 issue: 6419 year: 2018 ident: 1109_CR4 publication-title: Science doi: 10.1126/science.aav2621 – volume: 18 start-page: 388 issue: 3 year: 2019 ident: 1109_CR79 publication-title: Cerebellum. doi: 10.1007/s12311-019-1004-3 – volume: 72 start-page: 57 issue: Pt 1 year: 2008 ident: 1109_CR55 publication-title: Ann Hum Genet doi: 10.1111/j.1469-1809.2007.00388.x – volume: 69 start-page: 216 issue: 2 year: 2007 ident: 1109_CR108 publication-title: Neurology. doi: 10.1212/01.wnl.0000265596.72492.89 – volume: 18 start-page: 397 issue: 3 year: 2019 ident: 1109_CR94 publication-title: Cerebellum. doi: 10.1007/s12311-019-1006-1 – volume: 3 start-page: 517 year: 2015 ident: 1109_CR39 publication-title: Expert, Opin, Orphan doi: 10.1517/21678707.2015.1025747 – volume: 31 start-page: 123:e1 issue: 1 year: 2017 ident: 1109_CR87 publication-title: J Voice doi: 10.1016/j.jvoice.2016.01.010 – volume: 1049 start-page: 321 year: 2018 ident: 1109_CR54 publication-title: Adv Exp Med Biol doi: 10.1007/978-3-319-71779-1_17 – volume: 137 start-page: 2444 year: 2014 ident: 1109_CR36 publication-title: Brain doi: 10.1093/brain/awu174 – volume: 63 start-page: 1060 year: 1998 ident: 1109_CR33 publication-title: Am J Hum Genet doi: 10.1086/302067 – volume: 17 start-page: 65 year: 1997 ident: 1109_CR73 publication-title: Nat Genet doi: 10.1038/ng0997-65 – volume: 64 start-page: 1502 issue: 10 year: 2007 ident: 1109_CR59 publication-title: Arch Neurol doi: 10.1001/archneur.64.10.1502 – volume: 7 start-page: 5896 issue: 12 year: 2014 ident: 1109_CR85 publication-title: Int J Clin Exp Med – volume: 15 start-page: 272 issue: 3 year: 2007 ident: 1109_CR126 publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5201760 – volume: 378 start-page: 403 year: 1995 ident: 1109_CR69 publication-title: Nature. doi: 10.1038/378403a0 – volume: 212–213 start-page: 19 year: 2017 ident: 1109_CR56 publication-title: Cancer Gene Ther doi: 10.1016/j.cancergen.2017.03.008 – volume: 15 start-page: 518 issue: 4 year: 2016 ident: 1109_CR50 publication-title: Cerebellum. doi: 10.1007/s12311-015-0719-z – volume: 64 start-page: 594 issue: 2 year: 1999 ident: 1109_CR97 publication-title: Am J Hum Genet doi: 10.1086/302247 – volume: 18 start-page: 93 issue: 1 year: 2015 ident: 1109_CR109 publication-title: Ann Indian Acad Neurol doi: 10.4103/0972-2327.144285 – volume: 4 start-page: e4553 issue: 2 year: 2009 ident: 1109_CR14 publication-title: PLoS One doi: 10.1371/journal.pone.0004553 – volume: 27 start-page: 163 year: 1978 ident: 1109_CR29 publication-title: Rev Neurol (Cubana) – volume: 287 start-page: 13487 issue: 16 year: 2012 ident: 1109_CR133 publication-title: J Biol Chem doi: 10.1074/jbc.M111.286609 – volume: 8 start-page: 485 year: 2017 ident: 1109_CR51 publication-title: Front Neurol doi: 10.3389/fneur.2017.00485 – volume: 1049 start-page: 197 year: 2018 ident: 1109_CR74 publication-title: Adv Exp Med Biol doi: 10.1007/978-3-319-71779-1_9 – volume: 12 start-page: 902 issue: 6 year: 2013 ident: 1109_CR12 publication-title: Cerebellum. doi: 10.1007/s12311-013-0505-8 – volume: 32 start-page: 445 issue: 5 year: 2008 ident: 1109_CR134 publication-title: Genet Epidemiol doi: 10.1002/gepi.20317 – volume: 10 start-page: 121 issue: 1 year: 2019 ident: 1109_CR129 publication-title: J Community Genet doi: 10.1007/s12687-018-0369-1 – volume: 358 start-page: 72 issue: 1–2 year: 2015 ident: 1109_CR53 publication-title: J Neurol Sci doi: 10.1016/j.jns.2015.08.019 – volume: 354 start-page: 75 issue: 1–2 year: 2015 ident: 1109_CR83 publication-title: J Neurol Sci doi: 10.1016/j.jns.2015.04.053 – volume: 9 start-page: 419 issue: 3 year: 2007 ident: 1109_CR43 publication-title: Cerebellum. doi: 10.1007/s12311-010-0179-4 – volume: 351 start-page: 143 issue: 1–2 year: 2005 ident: 1109_CR49 publication-title: Clin Chim Acta doi: 10.1016/j.cccn.2004.08.010 – volume: 10 start-page: 252 issue: 1 year: 2016 ident: 1109_CR89 publication-title: Brain Imaging Behav doi: 10.1007/s11682-015-9389-1 – volume: 66 start-page: 1602 issue: 10 year: 2006 ident: 1109_CR122 publication-title: Neurology. doi: 10.1212/01.wnl.0000216266.30177.bb – volume: 17 start-page: 107 issue: 2 year: 2016 ident: 1109_CR44 publication-title: Neurogenetics. doi: 10.1007/s10048-016-0473-5 – volume: 118 start-page: 837 issue: 10 year: 2005 ident: 1109_CR115 publication-title: Chin Med J – volume: 36 start-page: 482 issue: 6 year: 2011 ident: 1109_CR114 publication-title: Zhong Nan Da Xue Xue Bao Yi Xue Ban – volume-title: III International Symposium of Hereditary Ataxias year: 2008 ident: 1109_CR32 – volume: 90 start-page: 203 issue: 2 year: 2019 ident: 1109_CR62 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2018-319200 – volume: 20 start-page: 3207 year: 2011 ident: 1109_CR18 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddr227 – volume: 132 start-page: 139 issue: 2 year: 2015 ident: 1109_CR107 publication-title: Acta Neurol Scand doi: 10.1111/ane.12371 – volume: 95 start-page: 351 year: 2000 ident: 1109_CR76 publication-title: Am J Med Genet doi: 10.1002/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R – volume: 2 start-page: 1 year: 2015 ident: 1109_CR23 publication-title: Cerebellum Ataxias doi: 10.1186/s40673-015-0020-4 – volume: 347 start-page: 375 issue: 1–2 year: 2014 ident: 1109_CR112 publication-title: J Neurol Sci doi: 10.1016/j.jns.2014.10.036 – volume: 61 start-page: 215 issue: 3 year: 2016 ident: 1109_CR28 publication-title: J Hum Genet doi: 10.1038/jhg.2015.131 – volume: 90 start-page: 134 issue: 2 year: 2016 ident: 1109_CR11 publication-title: Clin Genet doi: 10.1111/cge.12719 – volume: 12 start-page: 2 issue: 1 year: 2004 ident: 1109_CR64 publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5201108 – volume: 6 start-page: 873 issue: 6 year: 2018 ident: 1109_CR111 publication-title: Mol Genet Genomic Med doi: 10.1002/mgg3.533 – volume: 21 start-page: 1272 issue: 11 year: 2013 ident: 1109_CR124 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2013.32 – volume: 1937 start-page: 153 year: 1937 ident: 1109_CR67 publication-title: J Med Lyon – volume: 79 start-page: 100 issue: 1 year: 2011 ident: 1109_CR46 publication-title: Clin Genet doi: 10.1111/j.1399-0004.2010.01508.x – ident: 1109_CR5 – volume: 12 start-page: 1021 issue: 9 year: 2003 ident: 1109_CR132 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddg111 – volume: 18 start-page: 1188 issue: 11 year: 2010 ident: 1109_CR19 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2010.10 – volume: 14 start-page: 269 year: 1996 ident: 1109_CR17 publication-title: Nat Genet doi: 10.1038/ng1196-269 – volume: 10 start-page: 89 year: 1995 ident: 1109_CR71 publication-title: Nat Genet doi: 10.1038/ng0595-89 – volume: 20 start-page: 931 year: 2018 ident: 1109_CR91 publication-title: NeuroImage Clin doi: 10.1016/j.nicl.2018.09.026 – volume: 63 start-page: 1509 issue: 8 year: 2004 ident: 1109_CR103 publication-title: Neurology. doi: 10.1212/01.WNL.0000142109.62056.57 – volume: 7 start-page: 138 issue: 2 year: 2008 ident: 1109_CR66 publication-title: Cerebellum. doi: 10.1007/s12311-008-0027-y – volume: 261 start-page: 1691 issue: 9 year: 2014 ident: 1109_CR105 publication-title: J Neurol doi: 10.1007/s00415-014-7394-8 – volume: 20 start-page: 41 issue: 1 year: 2012 ident: 1109_CR34 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2011.154 – volume: 61 start-page: 727 year: 2004 ident: 1109_CR27 publication-title: Arch Neurol doi: 10.1001/archneur.61.5.727 – ident: 1109_CR57 – volume: 137 start-page: 183 year: 2019 ident: 1109_CR127 publication-title: Acta Neuropathol doi: 10.1007/s00401-018-1939-3 – volume: 12 start-page: 650 issue: 7 year: 2013 ident: 1109_CR38 publication-title: Lancet Neurol doi: 10.1016/S1474-4422(13)70104-2 – volume: 128 start-page: 2297 issue: Pt 10 year: 2005 ident: 1109_CR35 publication-title: Brain. doi: 10.1093/brain/awh586 – volume: 7 start-page: 889 year: 1999 ident: 1109_CR77 publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5200392 – ident: 1109_CR1 doi: 10.1007/978-3-540-37654-5_19 – volume: 153B start-page: 524 issue: 2 year: 2010 ident: 1109_CR137 publication-title: Am J Med Genet B Neuropsychiatr Genet doi: 10.1002/ajmg.b.31013 – volume: 103 start-page: 227 year: 2012 ident: 1109_CR16 publication-title: Handb Clin Neurol doi: 10.1016/B978-0-444-51892-7.00014-0 – volume: 58 start-page: 899 issue: 6 year: 2001 ident: 1109_CR41 publication-title: Arch Neurol doi: 10.1001/archneur.58.6.899 – volume: 29 start-page: 568 issue: 4 year: 2014 ident: 1109_CR52 publication-title: Mov Disord doi: 10.1002/mds.25803 – volume: 12 start-page: 336 issue: 3 year: 2001 ident: 1109_CR81 publication-title: Mol Cell – volume: 164 start-page: 3 issue: 1 year: 2001 ident: 1109_CR125 publication-title: J R Statist Soc A doi: 10.1111/1467-985X.00180 – volume: 13 start-page: 482 issue: 5 year: 2014 ident: 1109_CR20 publication-title: Lancet Neurol doi: 10.1016/S1474-4422(14)70027-4 – volume: 45 start-page: 407 issue: 3 year: 1999 ident: 1109_CR96 publication-title: Ann Neurol doi: 10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D – volume: 8 start-page: 472 year: 2017 ident: 1109_CR9 publication-title: Front Neurol doi: 10.3389/fneur.2017.00472 – volume: 72 start-page: 971 issue: 6 year: 1993 ident: 1109_CR131 publication-title: Cell. doi: 10.1016/0092-8674(93)90585-E – volume: 306 start-page: 234 issue: 5940 year: 1983 ident: 1109_CR130 publication-title: Nature. doi: 10.1038/306234a0 – volume: 248 start-page: 870 issue: 10 year: 2001 ident: 1109_CR10 publication-title: J Neurol doi: 10.1007/s004150170072 – volume: 26 start-page: 113 issue: 1 year: 2019 ident: 1109_CR61 publication-title: Eur J Neurol doi: 10.1111/ene.13779 – volume: 16 start-page: 11 issue: 1 year: 2015 ident: 1109_CR65 publication-title: Neurogenetics. doi: 10.1007/s10048-014-0424-y – ident: 1109_CR7 – volume: 1 start-page: e26 issue: 3 year: 2015 ident: 1109_CR116 publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000026 – volume: 10 issue: 8 year: 2015 ident: 1109_CR120 publication-title: PLoS One doi: 10.1371/journal.pone.0135906 – volume: 454 start-page: 157 issue: 2 year: 2009 ident: 1109_CR8 publication-title: Neurosci Lett. doi: 10.1016/j.neulet.2009.03.015 – volume: 19 start-page: 501 issue: 4 year: 2017 ident: 1109_CR106 publication-title: NeuroMolecular Med doi: 10.1007/s12017-017-8464-8 – volume: 106 start-page: S107 year: 2016 ident: 1109_CR80 publication-title: S Afr Med J doi: 10.7196/SAMJ.2016.v106i6.11010 – volume: 14 start-page: 728 issue: 6 year: 2015 ident: 1109_CR37 publication-title: Cerebellum. doi: 10.1007/s12311-015-0666-8 – volume: 9 start-page: 885 issue: 9 year: 2010 ident: 1109_CR21 publication-title: Lancet Neurol doi: 10.1016/S1474-4422(10)70183-6 – volume: 61 start-page: 1 year: 1993 ident: 1109_CR68 publication-title: Adv Neurol – volume: 78 start-page: 125 issue: 1 year: 2006 ident: 1109_CR100 publication-title: Am J Hum Genet doi: 10.1086/498654 – volume: 73 start-page: 725 issue: 8 year: 2015 ident: 1109_CR104 publication-title: Arq Neuropsiquiatr doi: 10.1590/0004-282X20150086 – volume: 10 start-page: 84 year: 1995 ident: 1109_CR70 publication-title: Nat Genet doi: 10.1038/ng0595-84 – volume: 67 start-page: 607 issue: 4 year: 2006 ident: 1109_CR101 publication-title: Neurology. doi: 10.1212/01.wnl.0000231140.26253.eb – volume-title: The black diaspora: five centuries of the black experience outside Africa year: 1985 ident: 1109_CR6 – volume: 51 start-page: 1666 issue: 6 year: 1998 ident: 1109_CR75 publication-title: Neurology. doi: 10.1212/WNL.51.6.1666 – volume: 64 start-page: 591 issue: 4 year: 2007 ident: 1109_CR123 publication-title: Arch Neurol doi: 10.1001/archneur.64.4.591 – volume: 18 start-page: 185 issue: 2 year: 2012 ident: 1109_CR47 publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2011.09.024 – volume: 84 start-page: 1409 issue: 12 year: 2013 ident: 1109_CR118 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2013-305080 – volume: 48 start-page: 3199 issue: 10 year: 2018 ident: 1109_CR90 publication-title: Eur J Neurosci doi: 10.1111/ejn.14148 – volume: 43 start-page: 871 issue: 6 year: 2017 ident: 1109_CR95 publication-title: Drug Dev Ind Pharm doi: 10.1080/03639045.2017.1281949 – volume: 7 start-page: 165 year: 1998 ident: 1109_CR63 publication-title: Hum Mol Genet doi: 10.1093/hmg/7.2.165 – volume: 9 start-page: 740 year: 2019 ident: 1109_CR60 publication-title: Front Genet doi: 10.3389/fgene.2018.00740 – volume: 28 start-page: 1708 issue: 12 year: 2013 ident: 1109_CR86 publication-title: Mov Disord doi: 10.1002/mds.25618 – volume: 15 start-page: 59 issue: 1 year: 2014 ident: 1109_CR113 publication-title: Neurogenetics. doi: 10.1007/s10048-013-0385-6 – volume: 18 start-page: 188 issue: 2 year: 2019 ident: 1109_CR135 publication-title: Cerebellum. doi: 10.1007/s12311-018-0977-7 – volume: 46 start-page: 1163 issue: 6 year: 1990 ident: 1109_CR22 publication-title: Am J Hum Genet – volume: 175 start-page: 1185 issue: 5 year: 2018 ident: 1109_CR110 publication-title: Cell doi: 10.1016/j.cell.2018.10.027 – volume: 68 start-page: 523 issue: 2 year: 2001 ident: 1109_CR58 publication-title: Am J Hum Genet doi: 10.1086/318184 – volume: 3 start-page: 27 year: 2017 ident: 1109_CR121 publication-title: NPJ Parkinsons Dis doi: 10.1038/s41531-017-0029-x – volume: 22 start-page: 1050 issue: 7 year: 2007 ident: 1109_CR24 publication-title: Mov Disord doi: 10.1002/mds.21470 – volume: 107 start-page: 211 issue: 3 year: 2003 ident: 1109_CR45 publication-title: Acta Neurol Scand doi: 10.1034/j.1600-0404.2003.00046.x – volume: 37 start-page: 2050 issue: 11 year: 2016 ident: 1109_CR88 publication-title: AJNR Am J Neuroradiol doi: 10.3174/ajnr.A4903 – ident: 1109_CR128 – volume: 8 start-page: e81342 issue: 11 year: 2013 ident: 1109_CR15 publication-title: PLoS One doi: 10.1371/journal.pone.0081342 – volume: 13 start-page: 17 issue: 1 year: 2014 ident: 1109_CR48 publication-title: Cerebellum. doi: 10.1007/s12311-013-0510-y – volume: 8 start-page: 918 year: 2000 ident: 1109_CR82 publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5200557 – volume: 30 start-page: 1037 year: 2009 ident: 1109_CR26 publication-title: Hum Mutat doi: 10.1002/humu.21006 – volume: 85 start-page: 159 issue: 2 year: 2014 ident: 1109_CR13 publication-title: Clin Genet doi: 10.1111/cge.12114 – volume: 4 start-page: 1441 year: 1995 ident: 1109_CR72 publication-title: Hum Mol Genet doi: 10.1093/hmg/4.8.1441 – ident: 1109_CR84 – volume: 216 start-page: 47 year: 2003 ident: 1109_CR25 publication-title: J Neurol Sci doi: 10.1016/S0022-510X(03)00209-0 – volume: 81 start-page: 197 issue: 5 year: 2017 ident: 1109_CR136 publication-title: Ann Hum Genet doi: 10.1111/ahg.12200 – volume: 90 start-page: 706 issue: 3 year: 2012 ident: 1109_CR102 publication-title: J Neurosci Res doi: 10.1002/jnr.22786 – volume: 57 start-page: 185 year: 1995 ident: 1109_CR31 publication-title: Am J Hum Genet – volume: 104 start-page: 224 year: 2001 ident: 1109_CR40 publication-title: Acta Neurol Scand doi: 10.1034/j.1600-0404.2001.00020.x – volume: 72 start-page: 543 issue: 6 year: 2007 ident: 1109_CR42 publication-title: Clin Genet doi: 10.1111/j.1399-0004.2007.00910.x – volume: 50 start-page: 234 issue: 2 year: 2001 ident: 1109_CR98 publication-title: Ann Neurol doi: 10.1002/ana.1081 |
| SSID | ssj0022047 |
| Score | 2.4136143 |
| SecondaryResourceType | review_article |
| Snippet | Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies... |
| SourceID | unpaywall pubmedcentral proquest pubmed crossref springer |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 446 |
| SubjectTerms | American Indian or Alaska Native - ethnology American Indian or Alaska Native - genetics Ataxin-10 - genetics Ataxin-2 - genetics Ataxin-3 - genetics Biomedical and Life Sciences Biomedicine Brazil - ethnology Caribbean Region - ethnology Clinical trials Cuba - ethnology Founder Effect Humans Mexico - ethnology Minority & ethnic groups Neurobiology Neurology Neurosciences Quality of life Repressor Proteins - genetics Review Spinocerebellar ataxia Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - ethnology Spinocerebellar Ataxias - genetics |
| SummonAdditionalLinks | – databaseName: Health & Medical Collection dbid: 7X7 link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1LjxQhECa6HtSDUddH62owMV5cYkPT0H0yk42bjYledOPcOkBDnGSWGecR3X9vFf0YJ5tMPANNQ1XBVxR8RcjbYARXQhompC2YFJYzY_KStUGCvgRfyhbfDn_5qi4u5edpOe0P3Nb9tcphTUwLdbtweEb-QWAAqgKHTX1c_mKYNQqjq30KjdvkDgeoglqtpzuHS-QpwRiXGn9DiP7RTPd0DoANONICr2XxvGZ6f2O6gTZvXpocI6f3yd1tXJrr32Y-_2dzOn9IHvSokk46NXhEbvn4mBxPInjUV9f0HU33PNMB-jH5kTIp-RXtiIvXdBHot-Uswka28hiGMCs62Zg_M7Oms0gBINIhrEORywpgaYRWJrap7AycbWu9iU_I5fmn72cXrE-vwFwp-YbJArqpAK-1AKpcoXXwRQnmb2UbtLUFeE7OWSdqm7taAu4p8BGu4krVwYDZFk_JUVxE_5zQukRcZmTFTS25UQacOBUcNApae5lnhA9z27ieexxTYMybHWsyyqMBeTRJHo3OyPuxzbJj3jhY-2QQWdNb4brZ6UxG3ozFYD8YFDHRL7ZYR4HXW5e1zMizTsJjd4XIkf4PPl7tyX6sgNzc-yVx9jNxdCOHEcxtlZHTQU12_3VoGKejKv3HqF8cHvVLck8kDcdDoxNytFlt_SvAUBv7OhnKX1w3E-4 priority: 102 providerName: ProQuest |
| Title | Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean |
| URI | https://link.springer.com/article/10.1007/s12311-020-01109-7 https://www.ncbi.nlm.nih.gov/pubmed/32086717 https://www.proquest.com/docview/2397987886 https://www.proquest.com/docview/2362109594 https://pubmed.ncbi.nlm.nih.gov/PMC11578058 https://www.ncbi.nlm.nih.gov/pmc/articles/11578058 |
| UnpaywallVersion | submittedVersion |
| Volume | 19 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVLSH databaseName: SpringerLink Journals customDbUrl: mediaType: online eissn: 1473-4230 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0022047 issn: 1473-4222 databaseCode: AFBBN dateStart: 20020301 isFulltext: true providerName: Library Specific Holdings – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1473-4230 dateEnd: 20241001 omitProxy: true ssIdentifier: ssj0022047 issn: 1473-4222 databaseCode: 7X7 dateStart: 20020301 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: http://www.proquest.com/pqcentral?accountid=15518 eissn: 1473-4230 dateEnd: 20241001 omitProxy: true ssIdentifier: ssj0022047 issn: 1473-4222 databaseCode: BENPR dateStart: 20020301 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVAVX databaseName: SpringerLINK - Czech Republic Consortium customDbUrl: eissn: 1473-4230 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0022047 issn: 1473-4222 databaseCode: AGYKE dateStart: 20020101 isFulltext: true titleUrlDefault: http://link.springer.com providerName: Springer Nature – providerCode: PRVAVX databaseName: SpringerLink Journals (ICM) customDbUrl: eissn: 1473-4230 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0022047 issn: 1473-4222 databaseCode: U2A dateStart: 20020301 isFulltext: true titleUrlDefault: http://www.springerlink.com/journals/ providerName: Springer Nature |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3db9MwED-x7gF4YMD4CBuTkRAvLFPiOHbymE0dE4gJARXlKbITW1QUt2pTwfjrd85XKUMTe4oUf8XO2f6d7-5ngJdG0pBTJn3KVOQzqkJfyiD2S8NQXoyOWelih9-f87MRezuOx21Q2LLzdu9MkvVKvQ52QyiCqi91jlRhkPpiC7Zjp6AMYDt78_XdsFe0aFBfLBYy4ZqntA2W-XctmxvSFZR51Vmyt5jehdsrO5cXP-V0-semdLoDo647jS_K96NVpY6K338xPd60v_fhXotSSdaI1QO4pe1D2M0saug_LsgrUvuN1gfyu_ClvplJL0hDhLwkM0M-zScWN8aFdmYNuSBZJX9N5JJMLEHASTozEXHcWAhzLZaStqzTTlB5V0pL-whGp8PPJ2d-e12DX8QsrHwWYTMJ4r8SQVoRCWF0FONyolhphFIRamJFoQqaqqBIGeKoyAX18pDz1EhcBqLHMLAzq58CSWOH8yRLQpmyUHKJSiE3BRYyQmgWeBB2_ywvWi5zd6XGNF-zMLvRy3H08nr0cuHB677MvGHyuDb3ficKeTurlzl1RtBEJAn34EWfjPPRGVmk1bOVy8NRi07jlHnwpJGcvrmIBo5OECtPNmSqz-C4vjdT7ORbzfntOJFwbBMPDjtpWX_Xdd047EX0P3r97Ga178EdWsunO5Tah0G1WOnniNEqdQBbYiwO2omJz-Ph-YeP-HZEs0ucpjDU |
| linkProvider | Springer Nature |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1Lb9QwEB6VcigcEFAegQJGAi40InGc1wGhVaHa0seFVuwttRNbrLR4l32o7J_iNzLjPJZVpRWXnv1I7Plsz3g83wC8MZKHCRfS50JFvuAq9KUMYr8yAvFidCwqih0-PUv6F-LrIB5swZ82FoaeVbZ7otuoq3FJd-QfODmgMjTYkk-TXz5ljSLvaptCo4bFsV5eock2-3j0GeX7lvPDL-cHfb_JKuCXsQjnvoiM0RmqKRXqEmWUpkZHMaJeicqkSkVoMJSlKnmugjIXeNxHFHuahEmSG4lojbDfW3BbRIEgrv50sDLweOASmoUipWFz3gTp1KF6qEih4c7pGVgY5H66fhBe026vP9LsPLV3YWdhJ3J5JUejfw7Dw_twr9FiWa-G3QPY0vYh7PYsWvA_l-wdc-9K3YX9Lnx3mZv0lNVEyTM2NuzbZGjx4JxqcnvIKevN5e-hnLGhZaiQstaNxIg7C9Vgi62krVzZARr3SmlpH8HFjUz8Y9i2Y6ufAstj0gOlyEKZi1AmEo3GxJTYyKSpFoEHYTu3RdlwnVPKjVGxYmkmeRQoj8LJo0g9eN-1mdRMHxtr77UiK5pVPytWGPXgdVeM65WcMNLq8YLqJGhl53EuPHhSS7j7XMQDohvEzrM12XcViAt8vcQOfzhOcOJMwrnNPNhvYbL6r03D2O-g9B-jfrZ51K9gp39-elKcHJ0dP4c73KGdLqz2YHs-XegXqL_N1Uu3aBhc3vQq_QsYSU86 |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1Zb9QwEB6VInE8IKAcgQJGAl5o1MRx4uQBoVXLqqVQIUHFvqVOYouVFu-yh8r-NX4dM86xrCqteOmzj8SeGXs-zwXwyigeJlwon4si8gUvQl-pIPYrI5BfjI5FRbHDn0-TozPxcRAPtuBPGwtDbpXtmegO6mpc0hv5PicDVIqALdk3jVvEl8P--8kvnypIkaW1LadRs8iJXl4gfJu9Oz5EWr_mvP_h28GR31QY8MtYhHNfRMboFFWWCvWKMpLS6ChGCShEZWRRRAgeyrIoeVYEZSbw6o8oDjUJkyQzCjk3wnmvwXUZiYjcyeRgBfZ44IqbhULSFnDeBOzUYXuoVCGI5-QSFgaZL9cvxUua7mWHzc5qextuLuxELS_UaPTPxdi_C3cajZb1aha8B1va3oednkU0_3PJ3jDnY-oe73fgu6vipKesTpo8Y2PDvk6GFi_RqSYTiJqy3lz9HqoZG1qGyilrTUqM8mihSmxxlLKVaztAoF8UWtkHcHYlG_8Qtu3Y6sfAsph0QiXSUGUiVIlCAJmYEgcZKbUIPAjbvc3LJu85ld8Y5auMzUSPHOmRO3rk0oO33ZhJnfVjY-_dlmR5cwLM8hW_evCya0bZJYOMsnq8oD4JIu4szoQHj2oKd5-LeECpB3HydI32XQfKC77eYoc_XH5wyp-Ee5t6sNeyyeq_Ni1jr2Ol_1j1k82rfgE3UD7zT8enJ0_hFnfMTm9Xu7A9ny70M1Tl5sVzJzMMzq9aSP8COJhTdQ |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Founder+Effects+of+Spinocerebellar+Ataxias+in+the+American+Continents+and+the+Caribbean&rft.jtitle=Cerebellum+%28London%2C+England%29&rft.au=Rodr%C3%ADguez-Labrada%2C+Roberto&rft.au=Martins%2C+Ana+Carolina&rft.au=Maga%C3%B1a%2C+Jonathan+J&rft.au=Vazquez-Mojena%2C+Yaime%C3%A9&rft.date=2020-06-01&rft.eissn=1473-4230&rft.volume=19&rft.issue=3&rft.spage=446&rft_id=info:doi/10.1007%2Fs12311-020-01109-7&rft_id=info%3Apmid%2F32086717&rft.externalDocID=32086717 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1473-4222&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1473-4222&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1473-4222&client=summon |