A Distinct Phenotype of Leg Hyperreflexia in a Japanese Family with Gerstmann-Straeussler-Scheinker Syndrome (P102L)
Author:
Affiliation:
1. Department of Neurology, Toho University Omori Medical Center
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/49/4/49_4_339/_pdf
Reference12 articles.
1. Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
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)
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3. A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene – case report;Prion;2023-02-22
4. Prion Mutations in Republic of Republic of Korea, China, and Japan;International Journal of Molecular Sciences;2022-12-30
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