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: Repositório Institucional da Universidade Federal do Ceará (UFC)
Download full: http://www.repositorio.ufc.br/handle/riufc/35953
Summary: 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 diseaseElevada variabilidade fenotípica na doença de Gerstmann-Sträussler-ScheinkerDoença de Gerstmann-Straussler-ScheinkerGerstmann-Straussler-Scheinker DiseasePrion DiseasesDoenças PriônicasGerstmann-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.A doença de Gerstmann-Sträussler-Scheinker é uma doença priônica genética, cuja mutação mais frequente é p.Pro102Leu. Descrevem-se dados clínicos, moleculares e neuropatológicos de sete indivíduos em duas famílias não relacionadas com p.Pro102Leu. Diferenças notáveis entre os pacientes em relação à idade de início, duração da doença e apresentação clínica foram encontradas. Na primeira família, dois pacientes apresentaram demência rapidamente progressiva e três apresentaram fenótipo de ataxia com idade variáveis de início e duração da doença. Nesta família, a idade de início entre mãe e filha diferiu em 39 anos. Na segunda família, fenótipos diferentes foram observados e idades precoces de início dos sintomas foram associadas à heterozigose no códon 129. Não houve diferença em relação ao genótipo do gene da apoE. O genótipo do códon 129 não foi responsável pela variabilidade clínica; heterozigose no códon 129 esteve associada ao início precoce da doença. O exame neuropatológico em dois pacientes confirmou presença de placas típicas e imunohistoquímica para PrPsc.Arquivos de Neuro-Psiquiatria2018-09-26T13:35:15Z2018-09-26T13:35:15Z2017-06info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleSMID, Jerusa et al. High phenotypic variability in Gerstmann-Sträussler-Scheinker disease. Arq. Neuro-Psiquiatr., São Paulo, v. 75, n.6, jun. 2017.Print 0004-282XOn-line 1678-4227http://www.repositorio.ufc.br/handle/riufc/35953Smid, JerusaStudart Neto, AdalbertoLandemberger, Michele ChristineMachado, Cleiton FagundesNóbrega, Paulo RibeiroCanedo, Nathalie Henriques SilvaSchultz, Rodrigo RizekNaslavsky, Michel SatyaRosemberg, SérgioKok, FernandoChimelli, LeilaMartins, Vilma ReginaNitrini, Ricardoengreponame:Repositório Institucional da Universidade Federal do Ceará (UFC)instname:Universidade Federal do Ceará (UFC)instacron:UFCinfo:eu-repo/semantics/openAccess2019-01-17T12:03:51ZRepositório InstitucionalPUB
dc.title.none.fl_str_mv High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
Elevada variabilidade fenotípica na doença de Gerstmann-Sträussler-Scheinker
title High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
spellingShingle High phenotypic variability in Gerstmann-Sträussler-Scheinker disease
Smid, Jerusa
Doença de Gerstmann-Straussler-Scheinker
Gerstmann-Straussler-Scheinker Disease
Prion Diseases
Doenças Priônicas
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 Doença de Gerstmann-Straussler-Scheinker
Gerstmann-Straussler-Scheinker Disease
Prion Diseases
Doenças Priônicas
topic Doença de Gerstmann-Straussler-Scheinker
Gerstmann-Straussler-Scheinker Disease
Prion Diseases
Doenças Priônicas
description 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
2018-09-26T13:35:15Z
2018-09-26T13:35:15Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv SMID, Jerusa et al. High phenotypic variability in Gerstmann-Sträussler-Scheinker disease. Arq. Neuro-Psiquiatr., São Paulo, v. 75, n.6, jun. 2017.
Print 0004-282X
On-line 1678-4227
http://www.repositorio.ufc.br/handle/riufc/35953
identifier_str_mv SMID, Jerusa et al. High phenotypic variability in Gerstmann-Sträussler-Scheinker disease. Arq. Neuro-Psiquiatr., São Paulo, v. 75, n.6, jun. 2017.
Print 0004-282X
On-line 1678-4227
url http://www.repositorio.ufc.br/handle/riufc/35953
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Arquivos de Neuro-Psiquiatria
publisher.none.fl_str_mv Arquivos de Neuro-Psiquiatria
dc.source.none.fl_str_mv reponame:Repositório Institucional da Universidade Federal do Ceará (UFC)
instname:Universidade Federal do Ceará (UFC)
instacron:UFC
instname_str Universidade Federal do Ceará (UFC)
instacron_str UFC
institution UFC
reponame_str Repositório Institucional da Universidade Federal do Ceará (UFC)
collection Repositório Institucional da Universidade Federal do Ceará (UFC)
repository.name.fl_str_mv
repository.mail.fl_str_mv
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