Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

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Published inJournal of neurology, neurosurgery and psychiatry Vol. 95; no. 3; pp. 288 - 290
Main Authors Guissart, Claire, De la Cruz, Elisa, Flabeau, Olivier, Grapperon, Aude-Marie, Corazza, Giovanni, Junilhon, Lucie, Delmas, Jean-Charles, Millecamps, Stéphanie, Polge, Anne, Amador, Maria del Mar, Salachas, Francois, Rochat, Julie, Goizet, Cyril, Juntas Morales, Raul, Lumbroso, Serge, Philibert, Pascal, Cheillan, David, Mouzat, Kevin
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.03.2024
BMJ Publishing Group LTD
BMJ Publishing Group
Subjects
ALS
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Atrophy
Consent
Ethics
GENETICS
Humans
Life Sciences
Lipids
Mass spectrometry
Mutation
Ostomy
Patients
PostScript
Proteins
Scientific imaging
Serine C-Palmitoyltransferase - genetics
Spasticity
Ventilation
ALS
GENETICS
Als
Genetics
Online AccessGet full text
ISSN0022-3050
1468-330X
1468-330X
DOI10.1136/jnnp-2023-331753

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Author Junilhon, Lucie
Rochat, Julie
De la Cruz, Elisa
Guissart, Claire
Goizet, Cyril
Grapperon, Aude-Marie
Corazza, Giovanni
Philibert, Pascal
Delmas, Jean-Charles
Flabeau, Olivier
Polge, Anne
Salachas, Francois
Lumbroso, Serge
Millecamps, Stéphanie
Amador, Maria del Mar
Mouzat, Kevin
Cheillan, David
Juntas Morales, Raul
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  orcidid: 0000-0002-3944-5715
  surname: Guissart
  fullname: Guissart, Claire
  email: claire.guissart@inserm.fr
  organization: The Neuroscience Institute of Montpellier, INM, INSERM, Montpellier, France
– sequence: 2
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  surname: De la Cruz
  fullname: De la Cruz, Elisa
  organization: Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier, France
– sequence: 3
  givenname: Olivier
  surname: Flabeau
  fullname: Flabeau, Olivier
  organization: Centre de Compétence des Maladies Neuromusculaires de Bayonne, Centre Hospitalier de la Cote Basque, Bayonne, France
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  givenname: Aude-Marie
  surname: Grapperon
  fullname: Grapperon, Aude-Marie
  organization: Reference Center for Neuromuscular Diseases and ALS, Timone University Hospital, Marseille, France
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  givenname: Lucie
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  fullname: Junilhon, Lucie
  organization: Laboratoire de Biochimie et Biologie Moléculaire, CHU Nimes, Univ Montpellier, Nîmes, France
– sequence: 7
  givenname: Jean-Charles
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  fullname: Delmas, Jean-Charles
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  organization: Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
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  fullname: Polge, Anne
  organization: Laboratoire de Biochimie et Biologie Moléculaire, CHU Nimes, Univ Montpellier, Nîmes, France
– sequence: 10
  givenname: Maria del Mar
  surname: Amador
  fullname: Amador, Maria del Mar
  organization: Centre référent SLA, Département de Neurologie, APHP, Hôpital Pitié-Salpêtrière, Paris, France
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  givenname: Francois
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  fullname: Salachas, Francois
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  fullname: Juntas Morales, Raul
  organization: Department of Neurology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier, France
– sequence: 15
  givenname: Serge
  surname: Lumbroso
  fullname: Lumbroso, Serge
  organization: The Neuroscience Institute of Montpellier, INM, INSERM, Montpellier, France
– sequence: 16
  givenname: Pascal
  surname: Philibert
  fullname: Philibert, Pascal
  organization: Laboratoire de Biochimie et Biologie Moléculaire, CHU Nimes, Univ Montpellier, Nîmes, France
– sequence: 17
  givenname: David
  surname: Cheillan
  fullname: Cheillan, David
  organization: Laboratoire CarMeN - Cardiovasculaire Métabolisme diabétologie et Nutrition, Inserm U1060, INRAE UMR1397, Université Claude Bernard Lyon 1, Pierre-Bénite, France
– sequence: 18
  givenname: Kevin
  surname: Mouzat
  fullname: Mouzat, Kevin
  organization: The Neuroscience Institute of Montpellier, INM, INSERM, Montpellier, France
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Cites_doi 10.1111/j.1432-1033.1997.00239.x
10.1001/jamaneurol.2021.2598
10.1038/85879
10.1038/s41591-021-01346-1
10.1172/JCI161908
ContentType Journal Article
Copyright Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Distributed under a Creative Commons Attribution 4.0 International License
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– notice: 2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
– notice: 2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
– notice: Distributed under a Creative Commons Attribution 4.0 International License
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Issue 3
Keywords ALS
GENETICS
Als
Genetics
Language English
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Mohassel, Donkervoort, Lone (R4) 2021; 27
Dawkins, Hulme, Brahmbhatt (R2) 2001; 27
Weiss, Stoffel (R1) 1997; 249
Lone, Aaltonen, Zidell (R5) 2022; 132
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SubjectTerms ALS
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Atrophy
Consent
Ethics
GENETICS
Humans
Life Sciences
Lipids
Mass spectrometry
Mutation
Ostomy
Patients
PostScript
Proteins
Scientific imaging
Serine C-Palmitoyltransferase - genetics
Spasticity
Ventilation
Title Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS
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