A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
Arch Neurol
; 58(11): 1899-902, 2001 Nov.
Article
em En
| MEDLINE
| ID: mdl-11709001
ABSTRACT
BACKGROUND:
Gerstmann-Sträussler-Scheinker disease is a rare form of prion disease.OBJECTIVE:
To determine the prion mutation in a 51-year-old man without a family history of neurologic disease who died from Gerstmann-Sträussler-Scheinker disease. PATIENT ANDMETHODS:
The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and eventually ataxia. Neuropathologic studies were performed, the results of which revealed abundant prion protein-immunopositive amyloid plaques in the cerebellum without spongiform degeneration.RESULTS:
Genetic analysis of the prion protein gene showed a novel mutation at codon 131 that caused a valine-for-glycine substitution (G131V) and homozygosity at codon 129 (129M). Proteinase K-resistant prion protein was detected by Western blot analysis.CONCLUSIONS:
This is the first mutation described in the short, antiparallel beta-sheet domain of the prion protein. This report highlights the importance of genetic analysis of patients with atypical dementia even in the absence of a family history.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Príons
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Doença de Gerstmann-Straussler-Scheinker
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Arch Neurol
Ano de publicação:
2001
Tipo de documento:
Article