Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation.
Amyotroph Lateral Scler
; 13(6): 567-9, 2012 Oct.
Article
em En
| MEDLINE
| ID: mdl-22670877
ABSTRACT
Mutations in the gene for superoxide dismutase type 1 cause amyotrophic lateral sclerosis (ALS), but are not thought to be associated with frontotemporal dementia (FTD). A lack of detailed case reports is one reason, among others, for this skepticism. This case report comments on a patient with familial ALS caused by I113T mutation in the SOD1 gene presenting with progressive cognitive and behavioral decline two years before developing progressive motor degeneration. In conclusion, this case provides evidence that SOD1 mutations can be associated with FTD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Superóxido Dismutase
/
Demência Frontotemporal
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Esclerose Lateral Amiotrófica
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Amyotroph Lateral Scler
Ano de publicação:
2012
Tipo de documento:
Article