Article
A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype.
Neurology - 13 Jun 2000
Majtényi C, Brown P, Cervenáková L, Goldfarb L G, Tateishi J
Abstract excerpt
OBJECTIVE: To describe a rare phenotypic variant of P102L Gerstmann-Sträussler-Scheinker disease (GSS). BACKGROUND: Classic GSS is characterized by an early age at onset, prominent cerebellar signs with a slowly evolving dementia, and a neuropathology including multifocal PrP-positive plaques and variable but usually modest spongiform change. METHODS: Clinical, neuropathologic, immunohistochemical, and molecular...
Topics
- Aged
- Amyloid beta-Peptides
- Cerebellar Cortex
- Cerebral Cortex
- Creutzfeldt-Jakob Syndrome
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Middle Aged
- Nuclear Family
- Phenotype