SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.
Ann Neurol
; 39(1): 128-31, 1996 Jan.
Article
em En
| MEDLINE
| ID: mdl-8572658
ABSTRACT
Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are found in 15 to 20% of patients with familial amyotrophic lateral sclerosis (FALS). Increased levels of neurofilament subunits in transgenic mouse models of ALS also suggests a key role for these proteins in the pathogenesis of the disease. We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient. These observations suggest that two mechanisms, SOD1-induced toxicity and neurofilament disruption, are acting together.
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Base de dados:
MEDLINE
Assunto principal:
Superóxido Dismutase
/
Proteínas de Neurofilamentos
/
Mutação Puntual
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Aged
/
Female
/
Humans
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article