Clinical Variability in P102L Gerstmann‐Sträussler‐Scheinker Syndrome
2019
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.
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