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Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome
Author(s) -
Tesar Adam,
Matej Radoslav,
Kukal Jaromir,
Johanidesova Silvie,
Rektorova Irena,
Vyhnalek Martin,
Keller Jiri,
Eliasova Ilona,
Parobkova Eva,
Smetakova Magdalena,
Musova Zuzana,
Rusina Robert
Publication year - 2019
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25579
Subject(s) - context (archaeology) , dementia , prion protein , disease , mutation , genetic data , czech , medicine , genetics , biology , pathology , gene , population , paleontology , environmental health , linguistics , philosophy
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