The frequency of the C9orf72 expansion in a Brazilian population

The frequency of the C9orf72 expansion in a Brazilian population

Author Cintra, Vivian Pedigone Google Scholar
Bonadia, Luciana Cardoso Google Scholar
Andrade, Helen Maia T. Google Scholar
Albuquerque, Milena de Google Scholar
Eusebio, Mayara Ferreira Google Scholar
Oliveira, Daniel Sabino de Google Scholar
Claudino, Rinaldo Google Scholar
Goncalves, Marcus Vinicius Magno Google Scholar
Teixeira Junior, Antonio Lucio Google Scholar
Prado, Laura de Godoy Rousseff Google Scholar
Souza, Leonardo Cruz de Google Scholar
Dourado Junior, Mario Emilio Teixeira Google Scholar
Oliveira, Acary Souza Bulle Autor UNIFESP Google Scholar
Tumas, Vitor Google Scholar
Franca Junior, Marcondes C. Google Scholar
Marques Junior, Wilson Google Scholar
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.
Keywords C9orf72
G(4)C(2) repeat expansion
Amyotrophic lateral sclerosis
Frontotemporal dementia
Neurodegenerative diseases
Language English
Sponsor Conselho Nacional de Desenvolvimento Cientifico e Tecnologico-CNPq
Comissao de Aperfeicoamento de Pessoal do Nivel Superior-CAPES (USP/RPMedicine-Neurology)
Fundacao de Apoio ao Ensino, Pesquisa e Assistencia-FAEPA, Brazil
Grant number CNPq: 4019942010-4
CAPES: 33002029012P3
Date 2018
Published in Neurobiology Of Aging. New York, v. 66, p. 1e1-1e4, 2018.
ISSN 0197-4580 (Sherpa/Romeo, impact factor)
Publisher Elsevier Science Inc
Extent 1e1-1e4
Access rights Closed access
Type Article
Web of Science ID WOS:000431006300024

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