Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.
Ann Neurol
; 86(5): 643-652, 2019 11.
Article
en En
| MEDLINE
| ID: mdl-31397917
ABSTRACT
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;86643-652.
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1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Gerstmann-Straussler-Scheinker
Límite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Ann Neurol
Año:
2019
Tipo del documento:
Article