High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Bibliographic Details
Main Author: Smid,Jerusa
Publication Date: 2017
Other Authors: Studart Neto,Adalberto, Landemberger,Michele Christine, Machado,Cleiton Fagundes, Nóbrega,Paulo Ribeiro, Canedo,Nathalie Henriques Silva, Schultz,Rodrigo Rizek, Naslavsky,Michel Satya, Rosemberg,Sérgio, Kok,Fernando, Chimelli,Leila, Martins,Vilma Regina, Nitrini,Ricardo
Format: Article
Language: eng
Source: Arquivos de Neuro-Psiquiatria
Download full: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600331
Summary: ABSTRACT Gerstmann-Sträussler-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.
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spelling High phenotypic variability in Gerstmann-Sträussler-Scheinker diseaseGerstmann-Sträussler-Scheinker diseaseprion diseasesprionsABSTRACT Gerstmann-Sträussler-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.Academia Brasileira de Neurologia - ABNEURO2017-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600331Arquivos de Neuro-Psiquiatria v.75 n.6 2017reponame:Arquivos de Neuro-Psiquiatriainstname:ABNEUROinstacron:ABNEURO10.1590/0004-282x20170049info:eu-repo/semantics/openAccessSmid,JerusaStudart Neto,AdalbertoLandemberger,Michele ChristineMachado,Cleiton FagundesNóbrega,Paulo RibeiroCanedo,Nathalie Henriques SilvaSchultz,Rodrigo RizekNaslavsky,Michel SatyaRosemberg,SérgioKok,FernandoChimelli,LeilaMartins,Vilma ReginaNitrini,Ricardoeng2020-04-25T19:49:45Zhttp://www.scielo.br/oai/scielo-oai.php0004-282X1678-4227opendoar:null2020-04-26 03:14:13.186Arquivos de Neuro-Psiquiatria - ABNEUROtrue
dc.title.none.fl_str_mv High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
title High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
spellingShingle High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
Smid,Jerusa
Gerstmann-Sträussler-Scheinker disease
prion diseases
prions
title_short High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
title_full High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
title_fullStr High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
title_full_unstemmed High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
title_sort High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
author Smid,Jerusa
author_facet Smid,Jerusa
Studart Neto,Adalberto
Landemberger,Michele Christine
Machado,Cleiton Fagundes
Nóbrega,Paulo Ribeiro
Canedo,Nathalie Henriques Silva
Schultz,Rodrigo Rizek
Naslavsky,Michel Satya
Rosemberg,Sérgio
Kok,Fernando
Chimelli,Leila
Martins,Vilma Regina
Nitrini,Ricardo
author_role author
author2 Studart Neto,Adalberto
Landemberger,Michele Christine
Machado,Cleiton Fagundes
Nóbrega,Paulo Ribeiro
Canedo,Nathalie Henriques Silva
Schultz,Rodrigo Rizek
Naslavsky,Michel Satya
Rosemberg,Sérgio
Kok,Fernando
Chimelli,Leila
Martins,Vilma Regina
Nitrini,Ricardo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Smid,Jerusa
Studart Neto,Adalberto
Landemberger,Michele Christine
Machado,Cleiton Fagundes
Nóbrega,Paulo Ribeiro
Canedo,Nathalie Henriques Silva
Schultz,Rodrigo Rizek
Naslavsky,Michel Satya
Rosemberg,Sérgio
Kok,Fernando
Chimelli,Leila
Martins,Vilma Regina
Nitrini,Ricardo
dc.subject.por.fl_str_mv Gerstmann-Sträussler-Scheinker disease
prion diseases
prions
topic Gerstmann-Sträussler-Scheinker disease
prion diseases
prions
dc.description.none.fl_txt_mv ABSTRACT Gerstmann-Sträussler-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.
description ABSTRACT Gerstmann-Sträussler-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.
publishDate 2017
dc.date.none.fl_str_mv 2017-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600331
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2017000600331
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282x20170049
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.75 n.6 2017
reponame:Arquivos de Neuro-Psiquiatria
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instacron:ABNEURO
reponame_str Arquivos de Neuro-Psiquiatria
collection Arquivos de Neuro-Psiquiatria
instname_str ABNEURO
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repository.name.fl_str_mv Arquivos de Neuro-Psiquiatria - ABNEURO
repository.mail.fl_str_mv
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