The frequency of the C9orf72 expansion in a Brazilian population

Show simple item record Cintra, Vivian Pedigone Bonadia, Luciana Cardoso Andrade, Helen Maia T. Albuquerque, Milena de Eusebio, Mayara Ferreira Oliveira, Daniel Sabino de Claudino, Rinaldo Goncalves, Marcus Vinicius Magno Teixeira Junior, Antonio Lucio Prado, Laura de Godoy Rousseff Souza, Leonardo Cruz de Dourado Junior, Mario Emilio Teixeira Oliveira, Acary Souza Bulle [UNIFESP] Tumas, Vitor Franca Junior, Marcondes C. Marques Junior, Wilson 2018-07-26T12:18:43Z 2018-07-26T12:18:43Z 2018
dc.identifier.citation Neurobiology Of Aging. New York, v. 66, p. 1e1-1e4, 2018.
dc.identifier.issn 0197-4580
dc.description.abstract G(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.sponsorship Conselho Nacional de Desenvolvimento Cientifico e Tecnologico-CNPq
dc.description.sponsorship Comissao de Aperfeicoamento de Pessoal do Nivel Superior-CAPES (USP/RPMedicine-Neurology)
dc.description.sponsorship Fundacao de Apoio ao Ensino, Pesquisa e Assistencia-FAEPA, Brazil
dc.format.extent 1e1-1e4
dc.language.iso eng
dc.publisher Elsevier Science Inc
dc.rights Acesso restrito
dc.subject C9orf72 en
dc.subject G(4)C(2) repeat expansion en
dc.subject Amyotrophic lateral sclerosis en
dc.subject Frontotemporal dementia en
dc.subject Neurodegenerative diseases en
dc.subject Frequency en
dc.title The frequency of the C9orf72 expansion in a Brazilian population en
dc.type Artigo
dc.description.affiliation Univ Sao Paulo, FMRP, Sao Paulo, Brazil
dc.description.affiliation Univ Estadual Campinas UNICAMP, FCC, Campinas, Brazil
dc.description.affiliation Univ Fed Santa Catarina, Dept Neurol, Florianopolis, SC, Brazil
dc.description.affiliation Univ Regiao Joinville UNIVILLE, Dept Neurol, Joinville, Brazil
dc.description.affiliation Univ Fed Minas Gerais, Dept Med Interna, Belo Horizonte, MG, Brazil
dc.description.affiliation Univ Fed Rio Grande Norte UFRN, Dept Neurol, Natal, RN, Brazil
dc.description.affiliation Univ Fed Sao Paulo UNIFESP, Dept Neurol & Neurocirurgia, Sao Paulo, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo UNIFESP, Dept Neurol & Neurocirurgia, Sao Paulo, Brazil
dc.description.sponsorshipID CNPq: 4019942010-4
dc.description.sponsorshipID CAPES: 33002029012P3
dc.identifier.doi 10.1016/j.neurobiolaging.2018.01.007
dc.description.source Web of Science
dc.identifier.wos WOS:000431006300024


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