Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome

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 phenotype...

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Published inAnnals of neurology Vol. 86; no. 5; pp. 643 - 652
Main Authors Tesar, Adam, Matej, Radoslav, Kukal, Jaromir, Johanidesova, Silvie, Rektorova, Irena, Vyhnalek, Martin, Keller, Jiri, Eliasova, Ilona, Parobkova, Eva, Smetakova, Magdalena, Musova, Zuzana, Rusina, Robert
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.11.2019
Wiley Subscription Services, Inc
Subjects
Adult
Aged
Cluster analysis
Dementia disorders
Female
Gerstmann-Straussler-Scheinker Disease - pathology
Gerstmann-Straussler-Scheinker Disease - physiopathology
Humans
Magnetic resonance imaging
Male
Middle Aged
Mutation
Paresthesia
Phenotype
Phenotypes
Prion protein
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Summary: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
Bibliography:ObjectType-Article-1
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ISSN:0364-5134
1531-8249
DOI:10.1002/ana.25579