Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
05
03
2019
revised:
05
08
2019
accepted:
07
08
2019
pubmed:
10
8
2019
medline:
9
4
2020
entrez:
10
8
2019
Statut:
ppublish
Résumé
Gerstmann-Sträussler-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. ANN NEUROL 2019;86:643-652.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
643-652Subventions
Organisme : Charles University
ID : Progress Q27/LF1
Pays : International
Organisme : Charles University
ID : Q28/LF1
Pays : International
Organisme : Charles University
ID : Q35/LF3
Pays : International
Organisme : Charles University
ID : GAUK 113115
Pays : International
Organisme : Ministry of Health
ID : AZV NV180400179
Pays : International
Organisme : Ministry of Health, Czech Republic
ID : VFN64165
Pays : International
Organisme : Ministry of Health, Czech Republic
ID : DZ1716
Pays : International
Organisme : Ministry of Health, Czech Republic
ID : TN 64190
Pays : International
Organisme : Ministry of Health, Czech Republic
ID : DZ1916
Pays : International
Organisme : Ministry of Health, Czech Republic
ID : FNM64203
Pays : International
Informations de copyright
© 2019 American Neurological Association.
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