TESAR, A., et al. Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome. Annals of Neurology. 2019, 86(5), 643-652. ISSN 0364-5134. DOI 10.1002/ana.25579.
Gerstmann-Straussler-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.
eng
dc.format.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
John Wiley & Sons
dc.relation.ispartof
Annals of Neurology
dc.subject
PRION PROTEIN GENE
eng
dc.subject
CREUTZFELDT-JAKOB-DISEASE
eng
dc.subject
PHENOTYPIC HETEROGENEITY
eng
dc.subject
STATISTICAL ANALYSIS
eng
dc.title
Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome