A Case of Gerstmann-Sträussler-Scheinker Disease

BACKGROUND: Gerstmann-Sträussler-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 d...

Descripción completa

Guardado en:
Detalles Bibliográficos
Formato: Artículo
Lenguaje:en
Publicado: Korean Neurological Association 2010
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2851297/
https://ncbi.nlm.nih.gov/pubmed/20386644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2010.6.1.46
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
Descripción
Sumario:BACKGROUND: Gerstmann-Sträussler-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.

Ejemplares similares