Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene.
Neurology
; 45(11): 2038-42, 1995 Nov.
Article
em En
| MEDLINE
| ID: mdl-7501156
ABSTRACT
We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS) through at least three successive generations. The mutation, which is predicted to cause the replacement of isoleucine at codon 104 by phenylalanine (I104F), is associated with a significant reduction in Cu/Zn SOD enzyme activity but results in a highly variable clinical phenotype. Age at onset varied from 6 to 55; the initial symptoms occurred in either the lower or upper extremities in different family members. The duration of the disease varied from 3 to 38 years. Two subjects, aged 59 and 34, remained asymptomatic until their death from other causes, although their offspring carrying the same mutation have already developed clinical evidence of the disease. These results suggest that FALS from this novel I104F mutation shows considerable clinical variation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Superóxido Dismutase
/
Mutação Puntual
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Esclerose Lateral Amiotrófica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
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Child
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Japão