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Title: The frequency of the C9orf72 expansion in a Brazilian population
Authors: 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
Keywords: C9orf72
G(4)C(2) repeat expansion
Amyotrophic lateral sclerosis
Frontotemporal dementia
Neurodegenerative diseases
Issue Date: 2018
Publisher: Elsevier Science Inc
Citation: Neurobiology Of Aging. New York, v. 66, p. 1e1-1e4, 2018.
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.
ISSN: 0197-4580
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