1. Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
- Author
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Tesar, Adam, Matej, Radoslav, Kukal, Jaromir, Johanidesova, Silvie, Rektorova, Irena, Vyhnalek, Martin, Keller, Jiri, Eliasova, Ilona, Parobkova, Eva, Smetakova, Magdalena, Musova, Zuzana, and Rusina, Robert
- Subjects
BOVINE spongiform encephalopathy ,PRION diseases ,MAGNETIC resonance imaging ,GENETIC disorders ,SYNDROMES ,PRIONS ,RESEARCH ,RESEARCH methodology ,GERSTMANN-Straussler-Scheinker disease ,EVALUATION research ,MEDICAL cooperation ,COMPARATIVE studies ,RESEARCH funding ,PHENOTYPES - Abstract
Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643-652. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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