A Case of Gerstmann-Straussler-Scheinker Disease
Journal of Clinical Neurology
;
: 46-50, 2010.
Article
Dans Anglais
| WPRIM
| ID: wpr-57287
ABSTRACT
BACKGROUND:
Gerstmann-Straussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102.CONCLUSIONS:
This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Codon
/
Cortex cérébral
/
Syndrome de Gerstmann-Sträussler-Scheinker
/
Maladies à prions
/
Démence
/
Dysarthrie
/
Démarche
/
Corée
Limites du sujet:
Femelle
/
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Clinical Neurology
Année:
2010
Type:
Article
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