Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.
J Clin Neurosci
; 19(12): 1738-9, 2012 Dec.
Article
en En
| MEDLINE
| ID: mdl-22999566
ABSTRACT
We report a patient with sporadic amyotrophic lateral sclerosis (ALS) with a novel fusion in malignant liposarcoma (FUS) gene mutation whose neurological signs were conspicuous left-sided rigidity and apraxia. A novel heterozygous guanine (G)-to-thymine (T) transition at position 1392, c.1392G>T, leading to a methionine-to-isoleucine substitution (p.Met464Ile), was found in exon13 of FUS. Re-sequencing of the genes for superoxide dismutase 1 (SOD1) and transactive response-DNA binding protein (TARDBP) revealed no mutations. The present findings suggest that this novel FUS mutation (p.Met464Ile) is related to manifestations of ALS as well as clinical features of corticobasal degeneration.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Proteína FUS de Unión a ARN
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Esclerosis Amiotrófica Lateral
Límite:
Humans
Idioma:
En
Revista:
J Clin Neurosci
Asunto de la revista:
NEUROLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Japón