TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.
Neurocase
; 24(5-6): 301-305, 2018.
Article
em En
| MEDLINE
| ID: mdl-30773994
ABSTRACT
Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Afasia Primária Progressiva
/
Proteínas de Ligação a DNA
Tipo de estudo:
Risk_factors_studies
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article