High phenotypic variability in Gerstmann-Straussler-Scheinker disease

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dc.citation.issue6]
dc.citation.volume75]
dc.contributor.authorSmid, Jerusa
dc.contributor.authorNeto, Adalberto Studart
dc.contributor.authorLandemberger, Michele Christine
dc.contributor.authorMachado, Cleiton Fagundes
dc.contributor.authorNobrega, Paulo Ribeiro
dc.contributor.authorSilva Canedo, Nathalie Henriques
dc.contributor.authorSchultz, Rodrigo Rizek [UNIFESP]
dc.contributor.authorNaslavsky, Michel Satya
dc.contributor.authorRosemberg, Sergio
dc.contributor.authorKok, Fernando
dc.contributor.authorChimelli, Leila
dc.contributor.authorMartins, Vilma Regina
dc.contributor.authorNitrini, Ricardo
dc.coverageSao Paulo Sp
dc.date.accessioned2020-06-26T16:30:42Z
dc.date.available2020-06-26T16:30:42Z
dc.date.issued2017
dc.description.abstractGerstmann-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.en
dc.description.affiliationUniv Sao Paulo, Dept Neurol, Fac Med, Sao Paulo, SP, Brazil
dc.description.affiliationAC Camargo Canc Ctr, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Ceara, Fac Med, Dept Neurol, Fortaleza, Ceara, Brazil
dc.description.affiliationUniv Fed Rio de Janeiro, Dept Patol, Rio De Janeiro, RJ, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Secao Neurol Comportamental, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Sao Paulo, Inst Biociencias, Ctr Estudos Genoma Humano, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Sao Paulo, Dept Patol, Div Neuropatol, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Secao Neurol Comportamental, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent331-338
dc.identifierhttp://dx.doi.org/10.1590/0004-282X20170049]
dc.identifier.citationArquivos De Neuro-Psiquiatria. Sao Paulo Sp, v. 75, n. 6, p. 331-338, 2017.
dc.identifier.doi10.1590/0004-282X20170049
dc.identifier.fileS0004-282X2017000600331.pdf
dc.identifier.issn0004-282X
dc.identifier.scieloS0004-282X2017000600331
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/53706
dc.identifier.wosWOS:000404476400002
dc.language.isoeng
dc.publisherAssoc Arquivos Neuro- Psiquiatria
dc.relation.ispartofArquivos De Neuro-Psiquiatria
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGerstmann-Straussler-Scheinker diseaseen
dc.subjectprion diseasesen
dc.subjectprionsen
dc.titleHigh phenotypic variability in Gerstmann-Straussler-Scheinker diseaseen
dc.typeinfo:eu-repo/semantics/article
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