A Japanese family with P102L Gerstmann–Sträussler–Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report
Author:
Publisher
Elsevier BV
Subject
Neurology
Reference9 articles.
1. Prion protein amyloidosis;Ghetti;Brain Pathol.,1996
2. The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jakob disease;Zeidler;Lancet.,2000
3. Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion disease;Higuma;PLoS One,2013
4. High phenotypic variability in Gerstmann-Sträussler-Scheinker disease;Smid;Arq. Neuropsiquiatr.,2017
5. Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset;Bianca;Ann. Genet.,2003
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation;Frontiers in Neurology;2023-08-03
2. Gerstmann—Sträussler disease: a familial case with common PRNP mutation and atypical features;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2023
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