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Genetics of amyotrophic lateral sclerosis

CORCIA P; COURATIER P; BLASCO H; ANDRES CR; BELTRAN S; MEININGER V; VOURC'H P
REV NEUROL (Paris) , 2017, vol. 173, n° 5, p. 254-262
Doc n°: 186643
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.1016/j.neurol.2017.03.030
Descripteurs : AE621 - SCLEROSE LATERALE AMYOTROPHIQUE

Amyotrophic 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.
CI - Copyright (c) 2017 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS

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