The clinical and genetic spectrum of primary familial brain calcification

Primary familial brain calcification (PFBC), formerly known as Fahr’s disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered funct...

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Published in	Journal of neurology Vol. 270; no. 6; pp. 3270 - 3277
Main Authors	Carecchio, Miryam, Mainardi, Michele, Bonato, Giulia
Format	Journal Article
Language	English
Published	Berlin/Heidelberg Springer Berlin Heidelberg 01.06.2023 Springer Nature B.V
Subjects	Atrophy Basal ganglia Basal Ganglia Diseases Blood-brain barrier Blood-Brain Barrier - metabolism Brain - diagnostic imaging Brain - metabolism Brain Diseases - diagnostic imaging Brain Diseases - genetics Brain Diseases - metabolism Calcification Calcification (ectopic) Calcium - metabolism Cerebellum Chelating agents Cognitive ability Humans Medical treatment Medicine Medicine & Public Health Mitochondria Movement disorders Mutation Mutation - genetics Neurodegenerative diseases Neurodegenerative Diseases - diagnostic imaging Neurodegenerative Diseases - genetics Neurodegenerative Diseases - metabolism Neurological Update Neurology Neuroradiology Neurosciences Pericytes Sodium-Phosphate Cotransporter Proteins, Type III - genetics Brain calcification Genetics PFBC Phenotype Fahr
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ISSN	0340-5354 1432-1459 1432-1459
DOI	10.1007/s00415-023-11650-0

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Abstract	Primary familial brain calcification (PFBC), formerly known as Fahr’s disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood–brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant ( SLC20A2 , PDGFB , PDGFRB , XPR1 ) and three with recessive inheritance ( MYORG , JAM2 , CMPK2 ). Clinical presentation ranges from asymptomatic subjects to movement disorders, cognitive decline and psychiatric disturbances alone or in various combinations. Radiological patterns of calcium deposition are similar in all known genetic forms, but central pontine calcification and cerebellar atrophy are highly suggestive of MYORG mutations and extensive cortical calcification has been associated with JAM2 mutations. Currently, no disease-modifying drugs or calcium-chelating agents are available and only symptomatic treatments can be offered.
AbstractList	Primary familial brain calcification (PFBC), formerly known as Fahr’s disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood–brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant ( SLC20A2 , PDGFB , PDGFRB , XPR1 ) and three with recessive inheritance ( MYORG , JAM2 , CMPK2 ). Clinical presentation ranges from asymptomatic subjects to movement disorders, cognitive decline and psychiatric disturbances alone or in various combinations. Radiological patterns of calcium deposition are similar in all known genetic forms, but central pontine calcification and cerebellar atrophy are highly suggestive of MYORG mutations and extensive cortical calcification has been associated with JAM2 mutations. Currently, no disease-modifying drugs or calcium-chelating agents are available and only symptomatic treatments can be offered. Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant (SLC20A2, PDGFB, PDGFRB, XPR1) and three with recessive inheritance (MYORG, JAM2, CMPK2). Clinical presentation ranges from asymptomatic subjects to movement disorders, cognitive decline and psychiatric disturbances alone or in various combinations. Radiological patterns of calcium deposition are similar in all known genetic forms, but central pontine calcification and cerebellar atrophy are highly suggestive of MYORG mutations and extensive cortical calcification has been associated with JAM2 mutations. Currently, no disease-modifying drugs or calcium-chelating agents are available and only symptomatic treatments can be offered. Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant (SLC20A2, PDGFB, PDGFRB, XPR1) and three with recessive inheritance (MYORG, JAM2, CMPK2). Clinical presentation ranges from asymptomatic subjects to movement disorders, cognitive decline and psychiatric disturbances alone or in various combinations. Radiological patterns of calcium deposition are similar in all known genetic forms, but central pontine calcification and cerebellar atrophy are highly suggestive of MYORG mutations and extensive cortical calcification has been associated with JAM2 mutations. Currently, no disease-modifying drugs or calcium-chelating agents are available and only symptomatic treatments can be offered.Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration. Seven causative genes have been discovered so far, of which four with dominant (SLC20A2, PDGFB, PDGFRB, XPR1) and three with recessive inheritance (MYORG, JAM2, CMPK2). Clinical presentation ranges from asymptomatic subjects to movement disorders, cognitive decline and psychiatric disturbances alone or in various combinations. Radiological patterns of calcium deposition are similar in all known genetic forms, but central pontine calcification and cerebellar atrophy are highly suggestive of MYORG mutations and extensive cortical calcification has been associated with JAM2 mutations. Currently, no disease-modifying drugs or calcium-chelating agents are available and only symptomatic treatments can be offered.
Author	Carecchio, Miryam Mainardi, Michele Bonato, Giulia
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Cites_doi	10.1038/s41421-022-00475-2 10.1016/j.parkreldis.2004.12.001 10.1212/NXG.0000000000200001 10.1016/j.parkreldis.2019.09.021 10.1016/j.jchemneu.2016.07.008 10.1038/nature09513 10.1212/WNL.0b013e31827ccf34 10.1016/j.celrep.2013.05.035 10.1186/s12883-020-01910-1 10.1093/brain/awt255 10.1016/j.neuron.2018.05.037 10.1007/s002470000338 10.3389/fendo.2016.00172 10.1159/000114632 10.1097/RLU.0b013e3181a7d195 10.1093/brain/awz392 10.1111/j.1552-6569.2011.00581.x 10.1038/ng.1077 10.1017/cjn.2016.428 10.1016/j.neuron.2010.09.043 10.1111/j.1365-2265.2012.04353.x 10.1159/000115537 10.1038/ng.3289 10.1016/j.devcel.2011.07.001 10.1093/brain/awz095 10.1038/srep25802 10.1016/j.arr.2016.08.002 10.1038/nature09522 10.1038/s41439-019-0073-7 10.1590/0004-282X20150154 10.1016/S0165-1781(01)00308-0 10.1371/journal.pbio.3001764 10.1001/archsurg.2007.55 10.1002/mds.28753 10.1016/j.pediatrneurol.2014.08.017 10.1001/jamaneurol.2014.3889 10.1007/s12264-022-00980-0 10.1016/j.ajhg.2010.10.026 10.1136/jnnp.40.3.280 10.1038/srep22961 10.1016/j.ajhg.2020.02.007 10.1212/NXG.0000000000000134 10.1007/s10072-019-03998-x 10.1212/NXG.0000000000000399 10.1002/ajmg.b.32605 10.1111/bpa.12158 10.3174/ajnr.A1694 10.1093/brain/awz032 10.1212/NXG.0000000000000077 10.1016/j.ajhg.2010.07.012 10.1086/301959 10.1016/j.parkreldis.2016.12.016 10.1038/ng.2723 10.1590/S0004-27302006000400012
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Keywords	Brain calcification Genetics PFBC Phenotype Fahr
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References	Bell, Winkler, Sagare, Singh, LaRue, Deane, Zlokovic (CR10) 2010; 68 Uggetti, La Piana, Orcesi, Egitto, Crow, Fazzi (CR47) 2009; 30 Chen, Lin, Chang, Lin, Lan (CR57) 2020; 20 Armulik, Genové, Betsholtz (CR24) 2011; 21 Manyam (CR52) 2005; 11 Daneman, Zhou, Kebede, Barres (CR11) 2010; 468 CR35 Kumar, Jog (CR56) 2017; 44 Wang, Li, Shi, Ren, Patti, Wang (CR15) 2012; 44 Mochida, Ganesh, Felie, Gleason, Hill, Clapham, Rakiec, Tan, Akawi, Al-Saffar, Partlow, Tinschert, Barkovich, Ali, Al-Gazali, Walsh (CR27) 2010; 87 Grangeon, Wallon, Charbonnier, Quenez, Richard, Rousseau, Budowski, Lebouvier, Corbille, Vidailhet, Méneret, Roze, Anheim, Tranchant, Favrole, Antoine, Defebvre, Ayrignac, Labauge, Pariente, Clanet, Maltête, Rovelet-Lecrux, Boland, Deleuze, Frebourg, Hannequin, Campion, Nicolas (CR32) 2019; 142 Keasey, Lemos, Hagg, Oliveira (CR22) 2016; 6 Yalcin, Ceylan, Bayraktutan, Sonkaya, Yuce (CR40) 2016; 78 Delacour (CR3) 1850; 2 Hempel, Henze, Berghoff, Garcia, Ody, Schröder (CR36) 2001; 108 Paghera, Caobelli, Giubbini (CR37) 2013; 23 CR7 Zarb, Weber-Stadlbauer, Kirschenbaum, Kindler, Richetto, Keller, Rademakers, Dickson, Pasch, Byzova, Nahar, Voigt, Helmchen, Boss, Aguzzi, Klohs, Keller (CR12) 2019; 142 Majamaa, Moilanen, Uimonen, Remes, Salmela, Kärppä, Majamaa-Voltti, Rusanen, Sorri, Peuhkurinen, Hassinen (CR48) 1998; 63 Betsholtz, Keller (CR8) 2014; 24 Karikkineth, Scheibye-Knudsen, Fivenson, Croteau, Bohr (CR46) 2017; 33 Caraceni, Broggi, Avanzini (CR5) 1974; 12 Goswami, Sharma, Sreenivas, Gupta, Ganapathy, Das (CR42) 2012; 77 Taglia, Kuipers, Breedveld, Mignarri, Dotti, Federico, Bonifati (CR33) 2019; 67 Boller, Boller, Gilbert (CR4) 1977; 40 Smits, Gabreëls, Thijssen, t Lam, Notermans, ter Haar, Prick (CR6) 1983; 22 Asari, Passler, Kaczirek, Scheuba, Niederle (CR43) 2008; 143 Tadic, Westenberger, Domingo, Alvarez-Fischer, Klein, Kasten (CR31) 2015; 72 O'Driscoll, Daly, Urquhart, Black, Pilz, Brockmann, McEntagart, Abdel-Salam, Zaki, Wolf, Ladda, Sell, D'Arrigo, Squier, Dobyns, Livingston, Crow (CR28) 2010; 87 Van Goethem, Livingston, Warren, Oojageer, Rice, Crow (CR51) 2014; 51 Fasano, Shahidi, Lang, Rohani (CR50) 2017; 36 Ichikawa, Tanaka, Kurita, Nakajima, Tanaka, Oishi, Goto, Tsuji, Chiba (CR55) 2019; 6 Paschali, Lakiotis, Messinis, Markaki, Constantoyannis, Ellul, Vassilakos (CR38) 2009; 34 Maeda, Fortes, Oliveira, Borba, Lazaretti-Castro (CR44) 2006; 50 Abate, Clarke (CR41) 2017; 7 Cen, Chen, Chen, Wang, Yang, Zhang, Wu, Wang, Tang, Ye, Shen, Wang, Fu, Chen, Xie, Liu, Xu, Cao, Cai, Pan, Li, Yang, Shan, Li, Liu, Zhang, Luo (CR20) 2020; 143 Keller, Westenberger, Sobrido, García-Murias, Domingo, Sears, Lemos, Ordoñez-Ugalde, Nicolas, da Cunha, Rushing, Hugelshofer, Wurnig, Kaech, Reimann, Lohmann, Dobričić, Carracedo, Petrović, Miyasaki, Abakumova, Mäe, Raschperger, Zatz, Zschiedrich, Klepper, Spiteri, Prieto, Navas, Preuss, Dering, Janković, Paucar, Svenningsson, Saliminejad, Khorshid, Novaković, Aguzzi, Boss, Le Ber, Defer, Hannequin, Kostić, Campion, Geschwind, Coppola, Betsholtz, Klein, Oliveira (CR17) 2013; 45 Armulik, Genové, Mäe, Nisancioglu, Wallgard, Niaudet, He, Norlin, Lindblom, Strittmatter, Johansson, Betsholtz (CR9) 2010; 468 Safriel, Haller, Lefton, Obedian (CR45) 2000; 30 Zhao, Su, Zeng, Sun, Guo, Li, Wang, Zhao, Huang, Lin, Ye, Lin, Hong, Zheng, Liu, Yao, Yang, Lu, Chen, Zuo, Yang, Wang, Huang, Lin, Cen, Lai, Zhang, Li, Lai, Lin, Zuo, Lin, Liou, Kong, Yan, Xiong, Wang, Luo, Zhao, Cheng, Chen (CR21) 2022; 8 Nicolas, Pottier, Charbonnier, Guyant-Maréchal, Le Ber, Pariente, Labauge, Ayrignac, Defebvre, Maltête, Martinaud, Lefaucheur, Guillin, Wallon, Chaumette, Rondepierre, Derache, Fromager, Schaeffer, Krystkowiak, Verny, Jurici, Sauvée, Vérin, Lebouvier, Rouaud, Thauvin-Robinet, Rousseau, Rovelet-Lecrux, Frebourg, Campion, Hannequin (CR29) 2013; 136 Balck, Schaake, Kuhnke, Domingo, Madoev, Margolesky, Dobricic, Alvarez-Fischer, Laabs, Kasten, Luo, Nicolas, Marras, Lohmann, Klein, Westenberger (CR30) 2021; 36 Oliveira, Oliveira (CR54) 2016; 6 Biancheri, Severino, Robbiano, Iacomino, Del Sette, Minetti (CR13) 2016; 2 Nicolas, Charbonnier, Campion, Veltman (CR1) 2018; 177 Chelban, Carecchio, Rea, Bowirrat, Kirmani, Magistrelli, Efthymiou, Schottlaender, Vandrovcova, Salpietro, Salsano, Pareyson, Chiapparini, Jan, Ibrahim, Khan, Qarnain, Groppa, Bajaj, Balint, Bhatia, Lees, Morrison, Wood, Garavaglia, Houlden (CR34) 2020; 6 Parasram, Levi Chazen, Sarva (CR59) 2020; 120 Meek, Brockerman, Fordwour, Zandberg, Davies, Vocadlo (CR25) 2022; 20 Fahr (CR2) 1930; 50 Xu, Sun, Luo, Cheng, Lv, Luo, Chen, Xiong, Liu (CR53) 2022 Giovannini, Touhami, Charnet, Sitbon, Battini (CR23) 2013; 3 Donzuso, Mostile, Nicoletti, Zappia (CR39) 2019; 40 Nicolas, Pottier, Maltête, Coutant, Rovelet-Lecrux, Legallic, Rousseau, Vaschalde, Guyant-Maréchal, Augustin, Martinaud, Defebvre, Krystkowiak, Pariente, Clanet, Labauge, Ayrignac, Lefaucheur, Le Ber, Frébourg, Hannequin, Campion (CR18) 2013; 80 Nicolas, Marguet, Laquerrière, Mendes de Oliveira, Hannequin (CR14) 2017; 3 Legati, Giovannini, Nicolas, López-Sánchez, Quintáns, Oliveira, Sears, Ramos, Spiteri, Sobrido, Carracedo, Castro-Fernández, Cubizolle, Fogel, Goizet, Jen, Kirdlarp, Lang, Miedzybrodzka, Mitarnun, Paucar, Paulson, Pariente, Richard, Salins, Simpson, Striano, Svenningsson, Tison, Unni, Vanakker, Wessels, Wetchaphanphesat, Yang, Boller, Campion, Hannequin, Sitbon, Geschwind, Battini, Coppola (CR16) 2015; 47 Yao, Cheng, Wang, Zhao, Guo, Su, Lai, Zou, Chen, Zhao, Dong, Lu, Wu, Li, Fan, Yu, Xu, Wang, Xiong, Chen (CR19) 2018; 98 Schottlaender, Abeti, Jaunmuktane, Macmillan, Chelban, O’Callaghan, McKinley, Maroofian, Efthymiou, Athanasiou-Fragkouli, Forbes, Soutar, Livingston, Kalmar, Swayne, Hotton, Pittman, Mendes de Oliveira, de Grandis, Richard-Loendt, Launchbury, Althonayan, McDonnell, Carr, Khan, Beetz, Bisgin, Tug Bozdogan, Begtrup, Torti, Greensmith, Giunti, Morrison, Brandner, Aurrand-Lions, Houlden (CR26) 2020; 106 Shen, Shillington, Espay, Hill (CR58) 2022; 8 Lorenzoni, Werneck, Kay, Silvado, Scola (CR49) 2015; 73 G Nicolas (11650_CR14) 2017; 3 G Nicolas (11650_CR29) 2013; 136 J Shen (11650_CR58) 2022; 8 A Armulik (11650_CR24) 2011; 21 T Caraceni (11650_CR5) 1974; 12 V Tadic (11650_CR31) 2015; 72 A Armulik (11650_CR9) 2010; 468 M Zhao (11650_CR21) 2022; 8 G Nicolas (11650_CR1) 2018; 177 R Biancheri (11650_CR13) 2016; 2 A Delacour (11650_CR3) 1850; 2 C Wang (11650_CR15) 2012; 44 N Kumar (11650_CR56) 2017; 44 11650_CR7 RW Meek (11650_CR25) 2022; 20 A Hempel (11650_CR36) 2001; 108 SY Chen (11650_CR57) 2020; 20 GH Mochida (11650_CR27) 2010; 87 C Betsholtz (11650_CR8) 2014; 24 EG Abate (11650_CR41) 2017; 7 G Van Goethem (11650_CR51) 2014; 51 Z Cen (11650_CR20) 2020; 143 A Keller (11650_CR17) 2013; 45 R Goswami (11650_CR42) 2012; 77 MC O'Driscoll (11650_CR28) 2010; 87 XP Yao (11650_CR19) 2018; 98 MG Smits (11650_CR6) 1983; 22 A Yalcin (11650_CR40) 2016; 78 LV Schottlaender (11650_CR26) 2020; 106 PJ Lorenzoni (11650_CR49) 2015; 73 V Chelban (11650_CR34) 2020; 6 B Paghera (11650_CR37) 2013; 23 D Giovannini (11650_CR23) 2013; 3 YI Safriel (11650_CR45) 2000; 30 S Maeda (11650_CR44) 2006; 50 F Boller (11650_CR4) 1977; 40 T Fahr (11650_CR2) 1930; 50 JR Oliveira (11650_CR54) 2016; 6 G Donzuso (11650_CR39) 2019; 40 11650_CR35 Y Ichikawa (11650_CR55) 2019; 6 X Xu (11650_CR53) 2022 R Daneman (11650_CR11) 2010; 468 BV Manyam (11650_CR52) 2005; 11 I Taglia (11650_CR33) 2019; 67 K Majamaa (11650_CR48) 1998; 63 MP Keasey (11650_CR22) 2016; 6 A Paschali (11650_CR38) 2009; 34 M Parasram (11650_CR59) 2020; 120 AC Karikkineth (11650_CR46) 2017; 33 A Fasano (11650_CR50) 2017; 36 Y Zarb (11650_CR12) 2019; 142 R Asari (11650_CR43) 2008; 143 C Uggetti (11650_CR47) 2009; 30 L Grangeon (11650_CR32) 2019; 142 A Legati (11650_CR16) 2015; 47 A Balck (11650_CR30) 2021; 36 RD Bell (11650_CR10) 2010; 68 G Nicolas (11650_CR18) 2013; 80
References_xml	– volume: 8 start-page: 128 issue: 1 year: 2022 ident: CR21 article-title: Loss of function of CMPK2 causes mitochondria deficiency and brain calcification publication-title: Cell Discov doi: 10.1038/s41421-022-00475-2 – volume: 11 start-page: 73 issue: 2 year: 2005 end-page: 80 ident: CR52 article-title: What is and what is not 'Fahr's disease' publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2004.12.001 – volume: 8 issue: 4 year: 2022 ident: CR58 article-title: Familial brain calcifications with leukoencephalopathy: a novel variant publication-title: Neurol Genet doi: 10.1212/NXG.0000000000200001 – volume: 67 start-page: 24 year: 2019 end-page: 26 ident: CR33 article-title: Primary familial brain calcification caused by MYORG mutations in an Italian family publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2019.09.021 – volume: 50 start-page: 129 year: 1930 end-page: 133 ident: CR2 article-title: Idiopathische verkalkung der hirngefässe publication-title: Zentrabl Allg Pathol – volume: 78 start-page: 20 year: 2016 end-page: 24 ident: CR40 article-title: Age and gender related prevalence of intracranial calcifications in CT imaging; data from 12,000 healthy subjects publication-title: J Chem Neuroanat doi: 10.1016/j.jchemneu.2016.07.008 – ident: CR35 – volume: 468 start-page: 562 year: 2010 end-page: 566 ident: CR11 article-title: Pericytes are required for blood-brain barrier integrity during embryogenesis publication-title: Nature doi: 10.1038/nature09513 – volume: 80 start-page: 181 year: 2013 end-page: 187 ident: CR18 article-title: Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification publication-title: Neurology doi: 10.1212/WNL.0b013e31827ccf34 – volume: 3 start-page: 1866 issue: 6 year: 2013 end-page: 1873 ident: CR23 article-title: Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans publication-title: Cell Rep doi: 10.1016/j.celrep.2013.05.035 – volume: 20 start-page: 329 issue: 1 year: 2020 ident: CR57 article-title: Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report publication-title: BMC Neurol doi: 10.1186/s12883-020-01910-1 – volume: 136 start-page: 3395 issue: 11 year: 2013 end-page: 3407 ident: CR29 article-title: Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification publication-title: Brain doi: 10.1093/brain/awt255 – volume: 2 start-page: 458 year: 1850 end-page: 461 ident: CR3 article-title: Ossification des capillaires du cerveau publication-title: Ann Med Psychol – volume: 98 start-page: 1116 issue: 6 year: 2018 end-page: 1123.e5 ident: CR19 article-title: Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification publication-title: Neuron doi: 10.1016/j.neuron.2018.05.037 – volume: 30 start-page: 725 year: 2000 end-page: 732 ident: CR45 article-title: Imaging of the brain in the HIV-positive child publication-title: Pediatr Radiol doi: 10.1007/s002470000338 – volume: 7 start-page: 172 year: 2017 ident: CR41 article-title: Review of hypoparathyroidism publication-title: Front Endocrinol (Lausanne) doi: 10.3389/fendo.2016.00172 – volume: 12 start-page: 351 issue: 5–6 year: 1974 end-page: 359 ident: CR5 article-title: Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features publication-title: Eur Neurol doi: 10.1159/000114632 – volume: 34 start-page: 421 issue: 7 year: 2009 end-page: 423 ident: CR38 article-title: Dopamine transporter SPECT/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis publication-title: Clin Nucl Med doi: 10.1097/RLU.0b013e3181a7d195 – volume: 143 start-page: 491 issue: 2 year: 2020 end-page: 502 ident: CR20 article-title: Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification publication-title: Brain doi: 10.1093/brain/awz392 – volume: 23 start-page: 157 issue: 1 year: 2013 end-page: 158 ident: CR37 article-title: 123I-ioflupane SPECT in Fahr disease publication-title: J Neuroimaging doi: 10.1111/j.1552-6569.2011.00581.x – volume: 44 start-page: 254 year: 2012 end-page: 256 ident: CR15 article-title: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis publication-title: Nat Genet doi: 10.1038/ng.1077 – volume: 44 start-page: 322 issue: 3 year: 2017 end-page: 323 ident: CR56 article-title: Fahr's disease presenting as late-onset levodopa-responsive parkinsonism publication-title: Can J Neurol Sci doi: 10.1017/cjn.2016.428 – volume: 68 start-page: 409 year: 2010 end-page: 427 ident: CR10 article-title: Pericytes control key neurovascular functions and neuronal phenotype in the adult brain and during brain aging publication-title: Neuron doi: 10.1016/j.neuron.2010.09.043 – volume: 77 start-page: 200 year: 2012 end-page: 206 ident: CR42 article-title: Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism publication-title: Clin Endocrinol doi: 10.1111/j.1365-2265.2012.04353.x – volume: 22 start-page: 58 issue: 1 year: 1983 end-page: 64 ident: CR6 article-title: Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings publication-title: Eur Neurol doi: 10.1159/000115537 – volume: 47 start-page: 579 year: 2015 end-page: 581 ident: CR16 article-title: Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export publication-title: Nat Genet doi: 10.1038/ng.3289 – volume: 21 start-page: 193 year: 2011 end-page: 215 ident: CR24 article-title: Pericytes: developmental, physiological, and pathological perspectives, problems, and promises publication-title: Dev Cell doi: 10.1016/j.devcel.2011.07.001 – volume: 142 start-page: 1573 issue: 6 year: 2019 end-page: 1586 ident: CR32 article-title: Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype publication-title: Brain doi: 10.1093/brain/awz095 – volume: 6 start-page: 25802 year: 2016 ident: CR22 article-title: Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1 publication-title: Sci Rep doi: 10.1038/srep25802 – volume: 33 start-page: 3 year: 2017 end-page: 17 ident: CR46 article-title: Cockayne syndrome: clinical features, model systems and pathways publication-title: Ageing Res Rev doi: 10.1016/j.arr.2016.08.002 – volume: 468 start-page: 557 year: 2010 end-page: 561 ident: CR9 article-title: Pericytes regulate the blood-brain barrier publication-title: Nature doi: 10.1038/nature09522 – volume: 6 start-page: 44 year: 2019 ident: CR55 article-title: Novel variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism publication-title: Hum Genome Var doi: 10.1038/s41439-019-0073-7 – volume: 73 start-page: 959 issue: 11 year: 2015 end-page: 967 ident: CR49 article-title: When should MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) be the diagnosis? publication-title: Arq Neuropsiquiatr doi: 10.1590/0004-282X20150154 – volume: 108 start-page: 133 issue: 2 year: 2001 end-page: 140 ident: CR36 article-title: PET findings and neuropsychological deficits in a case of Fahr’s disease publication-title: Psychiatry Res doi: 10.1016/S0165-1781(01)00308-0 – volume: 20 issue: 9 year: 2022 ident: CR25 article-title: The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity publication-title: PLoS Biol doi: 10.1371/journal.pbio.3001764 – volume: 143 start-page: 132 issue: 2 year: 2008 end-page: 137 ident: CR43 article-title: Hypoparathyroidism after total thyroidectomy: a prospective study publication-title: Arch Surg doi: 10.1001/archsurg.2007.55 – volume: 36 start-page: 2468 issue: 11 year: 2021 end-page: 2480 ident: CR30 article-title: Genotype-phenotype relations in primary familial brain calcification: systematic MDSGene review publication-title: Mov Disord doi: 10.1002/mds.28753 – volume: 51 start-page: 843 issue: 6 year: 2014 end-page: 845 ident: CR51 article-title: Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration publication-title: Pediatr Neurol doi: 10.1016/j.pediatrneurol.2014.08.017 – volume: 72 start-page: 460 year: 2015 end-page: 467 ident: CR31 article-title: Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization publication-title: JAMA Neurol doi: 10.1001/jamaneurol.2014.3889 – year: 2022 ident: CR53 article-title: The pathology of primary familial brain calcification: implications for treatment publication-title: Neurosci Bull doi: 10.1007/s12264-022-00980-0 – volume: 87 start-page: 882 issue: 6 year: 2010 end-page: 889 ident: CR27 article-title: A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.10.026 – volume: 40 start-page: 280 issue: 3 year: 1977 end-page: 285 ident: CR4 article-title: Familial idiopathic cerebral calcifications publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.40.3.280 – volume: 6 start-page: 22961 year: 2016 ident: CR54 article-title: Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate publication-title: Sci Rep doi: 10.1038/srep22961 – volume: 106 start-page: 412 issue: 3 year: 2020 end-page: 421 ident: CR26 article-title: Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2020.02.007 – volume: 3 issue: 2 year: 2017 ident: CR14 article-title: Microangiopathy in primary familial brain calcification: evidence from skin biopsies publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000134 – volume: 40 start-page: 2251 issue: 11 year: 2019 end-page: 2263 ident: CR39 article-title: Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features publication-title: Neurol Sci doi: 10.1007/s10072-019-03998-x – volume: 120 start-page: 808 issue: 11 year: 2020 ident: CR59 article-title: Primary familial brain calcification publication-title: J Am Osteopath Assoc – volume: 6 issue: 2 year: 2020 ident: CR34 article-title: MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000399 – volume: 177 start-page: 68 issue: 1 year: 2018 end-page: 74 ident: CR1 article-title: Estimation of minimal disease prevalence from population genomic data: application to primary familial brain calcification publication-title: Am J Med Genet B Neuropsychiatr Genet doi: 10.1002/ajmg.b.32605 – volume: 24 start-page: 387 issue: 4 year: 2014 end-page: 395 ident: CR8 article-title: PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC) publication-title: Brain Pathol doi: 10.1111/bpa.12158 – volume: 30 start-page: 1971 issue: 10 year: 2009 end-page: 1976 ident: CR47 article-title: Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up publication-title: AJNR Am J Neuroradiol doi: 10.3174/ajnr.A1694 – volume: 142 start-page: 885 issue: 4 year: 2019 end-page: 902 ident: CR12 article-title: Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response publication-title: Brain doi: 10.1093/brain/awz032 – volume: 2 year: 2016 ident: CR13 article-title: White matter involvement in a family with a novel PDGFB mutation publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000077 – ident: CR7 – volume: 87 start-page: 354 issue: 3 year: 2010 end-page: 364 ident: CR28 article-title: Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.07.012 – volume: 63 start-page: 447 issue: 2 year: 1998 end-page: 454 ident: CR48 article-title: Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population publication-title: Am J Hum Genet doi: 10.1086/301959 – volume: 36 start-page: 98 year: 2017 end-page: 99 ident: CR50 article-title: Basal ganglia calcification in a case of PKAN publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2016.12.016 – volume: 45 start-page: 1077 year: 2013 end-page: 1082 ident: CR17 article-title: Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice publication-title: Nat Genet doi: 10.1038/ng.2723 – volume: 50 start-page: 664 issue: 4 year: 2006 end-page: 673 ident: CR44 article-title: Hypoparathyroidism and pseudohypoparathyroidism publication-title: Arq Bras Endocrinol Metabol doi: 10.1590/S0004-27302006000400012 – volume: 108 start-page: 133 issue: 2 year: 2001 ident: 11650_CR36 publication-title: Psychiatry Res doi: 10.1016/S0165-1781(01)00308-0 – volume: 44 start-page: 254 year: 2012 ident: 11650_CR15 publication-title: Nat Genet doi: 10.1038/ng.1077 – volume: 40 start-page: 280 issue: 3 year: 1977 ident: 11650_CR4 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.40.3.280 – volume: 177 start-page: 68 issue: 1 year: 2018 ident: 11650_CR1 publication-title: Am J Med Genet B Neuropsychiatr Genet doi: 10.1002/ajmg.b.32605 – volume: 8 start-page: 128 issue: 1 year: 2022 ident: 11650_CR21 publication-title: Cell Discov doi: 10.1038/s41421-022-00475-2 – volume: 120 start-page: 808 issue: 11 year: 2020 ident: 11650_CR59 publication-title: J Am Osteopath Assoc – volume: 50 start-page: 129 year: 1930 ident: 11650_CR2 publication-title: Zentrabl Allg Pathol – volume: 63 start-page: 447 issue: 2 year: 1998 ident: 11650_CR48 publication-title: Am J Hum Genet doi: 10.1086/301959 – year: 2022 ident: 11650_CR53 publication-title: Neurosci Bull doi: 10.1007/s12264-022-00980-0 – volume: 143 start-page: 132 issue: 2 year: 2008 ident: 11650_CR43 publication-title: Arch Surg doi: 10.1001/archsurg.2007.55 – ident: 11650_CR7 – volume: 142 start-page: 885 issue: 4 year: 2019 ident: 11650_CR12 publication-title: Brain doi: 10.1093/brain/awz032 – volume: 21 start-page: 193 year: 2011 ident: 11650_CR24 publication-title: Dev Cell doi: 10.1016/j.devcel.2011.07.001 – volume: 7 start-page: 172 year: 2017 ident: 11650_CR41 publication-title: Front Endocrinol (Lausanne) doi: 10.3389/fendo.2016.00172 – volume: 36 start-page: 2468 issue: 11 year: 2021 ident: 11650_CR30 publication-title: Mov Disord doi: 10.1002/mds.28753 – volume: 77 start-page: 200 year: 2012 ident: 11650_CR42 publication-title: Clin Endocrinol doi: 10.1111/j.1365-2265.2012.04353.x – volume: 98 start-page: 1116 issue: 6 year: 2018 ident: 11650_CR19 publication-title: Neuron doi: 10.1016/j.neuron.2018.05.037 – volume: 11 start-page: 73 issue: 2 year: 2005 ident: 11650_CR52 publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2004.12.001 – volume: 2 start-page: 458 year: 1850 ident: 11650_CR3 publication-title: Ann Med Psychol – volume: 87 start-page: 882 issue: 6 year: 2010 ident: 11650_CR27 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.10.026 – volume: 73 start-page: 959 issue: 11 year: 2015 ident: 11650_CR49 publication-title: Arq Neuropsiquiatr doi: 10.1590/0004-282X20150154 – volume: 87 start-page: 354 issue: 3 year: 2010 ident: 11650_CR28 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.07.012 – volume: 30 start-page: 725 year: 2000 ident: 11650_CR45 publication-title: Pediatr Radiol doi: 10.1007/s002470000338 – volume: 68 start-page: 409 year: 2010 ident: 11650_CR10 publication-title: Neuron doi: 10.1016/j.neuron.2010.09.043 – volume: 106 start-page: 412 issue: 3 year: 2020 ident: 11650_CR26 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2020.02.007 – volume: 34 start-page: 421 issue: 7 year: 2009 ident: 11650_CR38 publication-title: Clin Nucl Med doi: 10.1097/RLU.0b013e3181a7d195 – volume: 468 start-page: 557 year: 2010 ident: 11650_CR9 publication-title: Nature doi: 10.1038/nature09522 – volume: 468 start-page: 562 year: 2010 ident: 11650_CR11 publication-title: Nature doi: 10.1038/nature09513 – volume: 80 start-page: 181 year: 2013 ident: 11650_CR18 publication-title: Neurology doi: 10.1212/WNL.0b013e31827ccf34 – volume: 143 start-page: 491 issue: 2 year: 2020 ident: 11650_CR20 publication-title: Brain doi: 10.1093/brain/awz392 – volume: 12 start-page: 351 issue: 5–6 year: 1974 ident: 11650_CR5 publication-title: Eur Neurol doi: 10.1159/000114632 – volume: 45 start-page: 1077 year: 2013 ident: 11650_CR17 publication-title: Nat Genet doi: 10.1038/ng.2723 – volume: 24 start-page: 387 issue: 4 year: 2014 ident: 11650_CR8 publication-title: Brain Pathol doi: 10.1111/bpa.12158 – volume: 6 start-page: 44 year: 2019 ident: 11650_CR55 publication-title: Hum Genome Var doi: 10.1038/s41439-019-0073-7 – volume: 3 issue: 2 year: 2017 ident: 11650_CR14 publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000134 – volume: 6 issue: 2 year: 2020 ident: 11650_CR34 publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000399 – volume: 36 start-page: 98 year: 2017 ident: 11650_CR50 publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2016.12.016 – volume: 6 start-page: 22961 year: 2016 ident: 11650_CR54 publication-title: Sci Rep doi: 10.1038/srep22961 – volume: 2 year: 2016 ident: 11650_CR13 publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000077 – volume: 23 start-page: 157 issue: 1 year: 2013 ident: 11650_CR37 publication-title: J Neuroimaging doi: 10.1111/j.1552-6569.2011.00581.x – volume: 20 start-page: 329 issue: 1 year: 2020 ident: 11650_CR57 publication-title: BMC Neurol doi: 10.1186/s12883-020-01910-1 – volume: 142 start-page: 1573 issue: 6 year: 2019 ident: 11650_CR32 publication-title: Brain doi: 10.1093/brain/awz095 – volume: 8 issue: 4 year: 2022 ident: 11650_CR58 publication-title: Neurol Genet doi: 10.1212/NXG.0000000000200001 – volume: 51 start-page: 843 issue: 6 year: 2014 ident: 11650_CR51 publication-title: Pediatr Neurol doi: 10.1016/j.pediatrneurol.2014.08.017 – volume: 20 issue: 9 year: 2022 ident: 11650_CR25 publication-title: PLoS Biol doi: 10.1371/journal.pbio.3001764 – volume: 78 start-page: 20 year: 2016 ident: 11650_CR40 publication-title: J Chem Neuroanat doi: 10.1016/j.jchemneu.2016.07.008 – volume: 40 start-page: 2251 issue: 11 year: 2019 ident: 11650_CR39 publication-title: Neurol Sci doi: 10.1007/s10072-019-03998-x – volume: 44 start-page: 322 issue: 3 year: 2017 ident: 11650_CR56 publication-title: Can J Neurol Sci doi: 10.1017/cjn.2016.428 – volume: 33 start-page: 3 year: 2017 ident: 11650_CR46 publication-title: Ageing Res Rev doi: 10.1016/j.arr.2016.08.002 – volume: 72 start-page: 460 year: 2015 ident: 11650_CR31 publication-title: JAMA Neurol doi: 10.1001/jamaneurol.2014.3889 – volume: 22 start-page: 58 issue: 1 year: 1983 ident: 11650_CR6 publication-title: Eur Neurol doi: 10.1159/000115537 – volume: 6 start-page: 25802 year: 2016 ident: 11650_CR22 publication-title: Sci Rep doi: 10.1038/srep25802 – volume: 50 start-page: 664 issue: 4 year: 2006 ident: 11650_CR44 publication-title: Arq Bras Endocrinol Metabol doi: 10.1590/S0004-27302006000400012 – volume: 47 start-page: 579 year: 2015 ident: 11650_CR16 publication-title: Nat Genet doi: 10.1038/ng.3289 – volume: 3 start-page: 1866 issue: 6 year: 2013 ident: 11650_CR23 publication-title: Cell Rep doi: 10.1016/j.celrep.2013.05.035 – volume: 67 start-page: 24 year: 2019 ident: 11650_CR33 publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2019.09.021 – ident: 11650_CR35 – volume: 30 start-page: 1971 issue: 10 year: 2009 ident: 11650_CR47 publication-title: AJNR Am J Neuroradiol doi: 10.3174/ajnr.A1694 – volume: 136 start-page: 3395 issue: 11 year: 2013 ident: 11650_CR29 publication-title: Brain doi: 10.1093/brain/awt255
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Snippet	Primary familial brain calcification (PFBC), formerly known as Fahr’s disease, is a rare neurodegenerative disease characterized by bilateral progressive... Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive...
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SubjectTerms	Atrophy Basal ganglia Basal Ganglia Diseases Blood-brain barrier Blood-Brain Barrier - metabolism Brain - diagnostic imaging Brain - metabolism Brain Diseases - diagnostic imaging Brain Diseases - genetics Brain Diseases - metabolism Calcification Calcification (ectopic) Calcium - metabolism Cerebellum Chelating agents Cognitive ability Humans Medical treatment Medicine Medicine & Public Health Mitochondria Movement disorders Mutation Mutation - genetics Neurodegenerative diseases Neurodegenerative Diseases - diagnostic imaging Neurodegenerative Diseases - genetics Neurodegenerative Diseases - metabolism Neurological Update Neurology Neuroradiology Neurosciences Pericytes Sodium-Phosphate Cotransporter Proteins, Type III - genetics
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Title	The clinical and genetic spectrum of primary familial brain calcification
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