Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome

• Autoři: TESAR Adam; MATEJ Radoslav; KUKAL Jaromir; JOHANIDESOVA Silvie; REKTOROVÁ Irena; VYHNALEK Martin; KELLER Jiri; ELIÁŠOVÁ Ilona; PAROBKOVA Eva; SMETAKOVA Magdalena; MUSOVA Zuzana; RUSINA Robert
• Rok publikování: 2019
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Annals of neurology
• Fakulta / Pracoviště MU: Lékařská fakulta
• www: http://dx.doi.org/10.1002/ana.25579
• Doi: http://dx.doi.org/10.1002/ana.25579
• Klíčová slova: PRION PROTEIN GENE; CREUTZFELDT-JAKOB-DISEASE; PHENOTYPIC HETEROGENEITY; VARIABLE PHENOTYPE; JAPANESE FAMILY; MUTATION; PRNP; INVOLVEMENT; CODON-102; DEMENTIA
• Popis: 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.