The frequency of the C9orf72 expansion in a Brazilian population

Página do item simplificado
dc.contributor.authorCintra, Vivian Pedigone
dc.contributor.authorBonadia, Luciana Cardoso
dc.contributor.authorAndrade, Helen Maia T.
dc.contributor.authorAlbuquerque, Milena de
dc.contributor.authorEusebio, Mayara Ferreira
dc.contributor.authorOliveira, Daniel Sabino de
dc.contributor.authorClaudino, Rinaldo
dc.contributor.authorGoncalves, Marcus Vinicius Magno
dc.contributor.authorTeixeira Junior, Antonio Lucio
dc.contributor.authorPrado, Laura de Godoy Rousseff
dc.contributor.authorSouza, Leonardo Cruz de
dc.contributor.authorDourado Junior, Mario Emilio Teixeira
dc.contributor.authorOliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.authorTumas, Vitor
dc.contributor.authorFranca Junior, Marcondes C.
dc.contributor.authorMarques Junior, Wilson
dc.date.accessioned2018-07-26T12:18:43Z
dc.date.available2018-07-26T12:18:43Z
dc.date.issued2018
dc.description.abstractG(4)C(2) hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence of the G(4)C(2) repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease and 67 FTD, and in 63 healthy controls in the southeastern region of Brazil. The highest frequencies of the C9orf72 mutation were in the ALS-FTD group (50% of familial and 17.6% of sporadic cases), although it was also present in 5% of pure ALS/motor neuron disease patients (11.8% of familial and 3.6% of sporadic cases) and in 7.1% of pure familial FTD. Among G(4)C(2) repeat mutation carriers, 68.8% of the subjects who developed dementia symptoms were females. This frequency was significantly higher than the percentage reached by men with C9orf72 expansion who had this phenotype (p = 0.047). No abnormal repeat expansion was found in control groups. Inclusion of the C9orf72 genetic test in the molecular panels for Brazilian populations with these neurodegenerative diseases should be strongly considered. (C) 2018 Elsevier Inc. All rights reserved.en
dc.description.affiliationUniv Sao Paulo, FMRP, Sao Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas UNICAMP, FCC, Campinas, Brazil
dc.description.affiliationUniv Fed Santa Catarina, Dept Neurol, Florianopolis, SC, Brazil
dc.description.affiliationUniv Regiao Joinville UNIVILLE, Dept Neurol, Joinville, Brazil
dc.description.affiliationUniv Fed Minas Gerais, Dept Med Interna, Belo Horizonte, MG, Brazil
dc.description.affiliationUniv Fed Rio Grande Norte UFRN, Dept Neurol, Natal, RN, Brazil
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Dept Neurol & Neurocirurgia, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo UNIFESP, Dept Neurol & Neurocirurgia, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico-CNPq
dc.description.sponsorshipComissao de Aperfeicoamento de Pessoal do Nivel Superior-CAPES (USP/RPMedicine-Neurology)
dc.description.sponsorshipFundacao de Apoio ao Ensino, Pesquisa e Assistencia-FAEPA, Brazil
dc.description.sponsorshipIDCNPq: 4019942010-4
dc.description.sponsorshipIDCAPES: 33002029012P3
dc.format.extent1e1-1e4
dc.identifierhttp://dx.doi.org/10.1016/j.neurobiolaging.2018.01.007
dc.identifier.citationNeurobiology Of Aging. New York, v. 66, p. 1e1-1e4, 2018.
dc.identifier.doi10.1016/j.neurobiolaging.2018.01.007
dc.identifier.issn0197-4580
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/46018
dc.identifier.wosWOS:000431006300024
dc.language.isoeng
dc.publisherElsevier Science Inc
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectC9orf72en
dc.subjectG(4)C(2) repeat expansionen
dc.subjectAmyotrophic lateral sclerosisen
dc.subjectFrontotemporal dementiaen
dc.subjectNeurodegenerative diseasesen
dc.subjectFrequencyen
dc.titleThe frequency of the C9orf72 expansion in a Brazilian populationen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Coleções
EPM - Artigos