High phenotypic variability in Gerstmann-Straussler-Scheinker disease

High phenotypic variability in Gerstmann-Straussler-Scheinker disease

Author Smid, Jerusa Google Scholar
Neto, Adalberto Studart Google Scholar
Landemberger, Michele Christine Google Scholar
Machado, Cleiton Fagundes Google Scholar
Nobrega, Paulo Ribeiro Google Scholar
Silva Canedo, Nathalie Henriques Google Scholar
Schultz, Rodrigo Rizek Autor UNIFESP Google Scholar
Naslavsky, Michel Satya Google Scholar
Rosemberg, Sergio Google Scholar
Kok, Fernando Google Scholar
Chimelli, Leila Google Scholar
Martins, Vilma Regina Google Scholar
Nitrini, Ricardo Google Scholar
Abstract Gerstmann-Straussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.
Keywords Gerstmann-Straussler-Scheinker disease
prion diseases
xmlui.dri2xhtml.METS-1.0.item-coverage Sao Paulo Sp
Language English
Date 2017
Published in Arquivos De Neuro-Psiquiatria. Sao Paulo Sp, v. 75, n. 6, p. 331-338, 2017.
ISSN 0004-282X (Sherpa/Romeo, impact factor)
Publisher Assoc Arquivos Neuro- Psiquiatria
Extent 331-338
Origin http://dx.doi.org/10.1590/0004-282X20170049
Access rights ACESSO ABERTO
Type Article
Web of Science ID WOS:000404476400002
SciELO ID S0004-282X2017000600331 (statistics in SciELO)
URI https://repositorio.unifesp.br/handle/11600/53706

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