J 2019

Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome

TESAR, Adam, Radoslav MATEJ, Jaromir KUKAL, Silvie JOHANIDESOVA, Irena REKTOROVÁ et. al.

Basic information

Original name

Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome

Authors

TESAR, Adam (203 Czech Republic), Radoslav MATEJ (203 Czech Republic), Jaromir KUKAL (203 Czech Republic), Silvie JOHANIDESOVA (203 Czech Republic), Irena REKTOROVÁ (203 Czech Republic, belonging to the institution), Martin VYHNALEK (203 Czech Republic), Jiri KELLER (203 Czech Republic), Ilona ELIÁŠOVÁ (203 Czech Republic, belonging to the institution), Eva PAROBKOVA (203 Czech Republic), Magdalena SMETAKOVA (203 Czech Republic), Zuzana MUSOVA (203 Czech Republic) and Robert RUSINA (203 Czech Republic, guarantor)

Edition

Annals of neurology, Hoboken, John Wiley & Sons, 2019, 0364-5134

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30103 Neurosciences

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 9.037

RIV identification code

RIV/00216224:14110/19:00111745

Organization unit

Faculty of Medicine

UT WoS

000490325800002

Keywords in English

PRION PROTEIN GENE; CREUTZFELDT-JAKOB-DISEASE; PHENOTYPIC HETEROGENEITY; VARIABLE PHENOTYPE; JAPANESE FAMILY; MUTATION; PRNP; INVOLVEMENT; CODON-102; DEMENTIA

Tags

International impact, Reviewed
Změněno: 31/3/2020 22:12, Mgr. Pavla Foltynová, Ph.D.

Abstract

V originále

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.