ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
Neurology
; 82(12): 1065-7, 2014 Mar 25.
Article
em En
| MEDLINE
| ID: mdl-24562058
ABSTRACT
OBJECTIVE:
To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.METHODS:
A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used.RESULTS:
Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) (ALS2) gene.CONCLUSIONS:
We report generalized dystonia and cerebellar signs in association with ALS2-related disease. We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distúrbios Distônicos
/
Fatores de Troca do Nucleotídeo Guanina
/
Esclerose Lateral Amiotrófica
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article