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Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome

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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

Citace
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.

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