Genetics of amyotrophic lateral sclerosis.
Rev Neurol (Paris)
; 173(5): 254-262, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-28449881
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esclerose Lateral Amiotrófica
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Rev Neurol (Paris)
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
França