• Rev Neurol France · May 2017

    Review

    Genetics of amyotrophic lateral sclerosis.

    • P Corcia, P Couratier, H Blasco, C R Andres, S Beltran, V Meininger, and P Vourc'h.
    • Centre de Ressources et de Compétences SLA, CHU Tours, 4 boulevard Tonnellé, 37000 Tours, France; Inserm Unit UMR U930, 37000 Tours, France; Fédération des Centres de Ressources et de Compétences de Tours et Limoges, LITORALS, France.
    • Rev Neurol France. 2017 May 1; 173 (5): 254-262.

    AbstractAmyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. Familial ALS (fALS) accounts for 10-20% of cases. Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors.Copyright © 2017 Elsevier Masson SAS. All rights reserved.

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