TY - JOUR
T1 - The frequency of the C9orf72 expansion in a Brazilian population
AU - Cintra, Vívian Pedigone
AU - Bonadia, Luciana Cardoso
AU - Andrade, Helen Maia T.
AU - de Albuquerque, Milena
AU - Eusébio, Mayara Ferreira
AU - de Oliveira, Daniel Sabino
AU - Claudino, Rinaldo
AU - Gonçalves, Marcus Vinicius Magno
AU - Teixeira, Antônio Lúcio
AU - de Godoy Rousseff Prado, Laura
AU - de Souza, Leonardo Cruz
AU - Dourado, Mario Emilio Teixeira
AU - Oliveira, Acary Souza Bulle
AU - Tumas, Vitor
AU - França, Marcondes C.
AU - Marques, Wilson
N1 - Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2018/6
Y1 - 2018/6
N2 - G4C2 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 G4C2 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 G4C2 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.
AB - G4C2 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 G4C2 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 G4C2 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.
KW - Amyotrophic lateral sclerosis
KW - C9orf72
KW - Frequency
KW - Frontotemporal dementia
KW - GC repeat expansion
KW - Neurodegenerative diseases
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U2 - 10.1016/j.neurobiolaging.2018.01.007
DO - 10.1016/j.neurobiolaging.2018.01.007
M3 - Article
C2 - 29449030
AN - SCOPUS:85044535134
SN - 0197-4580
VL - 66
SP - 179.e1-179.e4
JO - Neurobiology of Aging
JF - Neurobiology of Aging
ER -