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Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome
A. Tesar, R. Matej, J. Kukal, S. Johanidesova, I. Rektorova, M. Vyhnalek, J. Keller, I. Eliasova, E. Parobkova, M. Smetakova, Z. Musova, R. Rusina,
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
Progress Q27/LF1
Charles University - International
Q28/LF1
Charles University - International
Q35/LF3
Charles University - International
GAUK 113115
Charles University - International
AZV NV180400179
Ministry of Health - International
VFN64165
Ministry of Health, Czech Republic - International
DZ1716
Ministry of Health, Czech Republic - International
TN 64190
Ministry of Health, Czech Republic - International
DZ1916
Ministry of Health, Czech Republic - International
FNM64203
Ministry of Health, Czech Republic - International
PubMed
31397917
DOI
10.1002/ana.25579
Knihovny.cz E-resources
- MeSH
- Adult MeSH
- Phenotype MeSH
- Gerstmann-Straussler-Scheinker Disease pathology physiopathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
Department of Neurology 3rd Faculty of Medicine Charles University and Thomayer Hospital Prague
Faculty of Nuclear Sciences and Physical Engineering Czech Technical University Prague
References provided by Crossref.org
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