Genetics of amyotrophic lateral sclerosis: A review.

Stéphane Mathis, Cyril Goizet, Antoine Soulages, Jean-Michel Vallat, Gwendal Le Masson
Journal of the Neurological Sciences. 2019-04-01; 399: 217-226
DOI: 10.1016/j.jns.2019.02.030

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1. J Neurol Sci. 2019 Apr 15;399:217-226. doi: 10.1016/j.jns.2019.02.030. Epub 2019
Feb 21.

Genetics of amyotrophic lateral sclerosis: A review.

Mathis S(1), Goizet C(2), Soulages A(3), Vallat JM(4), Masson GL(5).

Author information:
(1)Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux, (Pellegrin
Hospital), University of Bordeaux, F-33000 Bordeaux, France; ALS Center,
Nerve-Muscle Unit, CHU Bordeaux, (Pellegrin Hospital), University of Bordeaux,
F-33000 Bordeaux, France. Electronic address: .
(2)Department of Medical Genetics, ‘Centre de Référence Maladies Rares
Neurogénétique’, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, 33000
Bordeaux, France; Laboratoire MRGM, INSERM U1211, F-33000 Bordeaux, France.
(3)Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux, (Pellegrin
Hospital), University of Bordeaux, F-33000 Bordeaux, France.
(4)Department of Neurology, ‘Centre de référence neuropathies rares’, 2 avenue
Martin Luther King, F-87000 Limoges, France.
(5)Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux, (Pellegrin
Hospital), University of Bordeaux, F-33000 Bordeaux, France; Neurocentre
Magendie, ‘Physiopathologie de la Plasticité Neuronale’, University of Bordeaux,
U862, F-33000 Bordeaux, France; INSERM, Neurocentre Magendie, ‘Physiopathologie
de la Plasticité Neuronale’, U862, F-33000 Bordeaux, France.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor
pathways, invariably leading to death within a few years of onset. Most cases of
ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the
cases. Since the first identification of a causative gene in the 1990s and with
recent advances in genetics, more than twenty genes have now been linked to FALS.
This increased number of genes led to a tremendous amount of research, clearly
contributed to a better understanding of the pathophysiology of this disorder,
and paved the way for the development of new therapeutics and new hope for this
fatal disease.

Copyright © 2019 Elsevier B.V. All rights reserved.

DOI: 10.1016/j.jns.2019.02.030
PMID: 30870681 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus