Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature-Reference-Cited by-同舟云学术

Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature

Published:2013-02 Issue:1 Volume:19 Page:41-53
ISSN:1355-4794
Container-title:Neurocase
language:en
Short-container-title:Neurocase

Author:

Rusina Robert,Fiala Jindřich,Holada Karel,Matějčková Milada,Nováková Jana,Ampapa Radek,Koukolík František,Matěj Radoslav

Publisher

Informa UK Limited

Subject

Neurology (clinical),Arts and Humanities (miscellaneous)

Link

http://www.tandfonline.com/doi/pdf/10.1080/13554794.2011.654215

Reference33 articles.

1. Prions: Protein Aggregation and Infectious Diseases

2. Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)

3. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation)

4. Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset

5. Neuropathology of Gerstmann-Str�ussler-Scheinker disease

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3. Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation;Frontiers in Neurology;2023-08-03

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