Gerstmann-Sträussler-Scheinker disease with atypical presentation.
BMJ Case Rep
; 20172017 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-29092967
ABSTRACT
We describe a 37-year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions and episodes of altered consciousness. She was found to be heterozygous for the Q212P mutation in the prion protein gene. She died over a decade after initial presentation and a diagnosis of prion disease was confirmed at postmortem.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Gerstmann-Straussler-Scheinker
/
Proteínas Priônicas
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2017
Tipo de documento:
Article