Produção Nacional
Revisado por pares
The frequency of the C9orf72 expansion in a Brazilian population
2018; Elsevier BV; Volume: 66; Linguagem: Inglês
10.1016/j.neurobiolaging.2018.01.007
ISSN1558-1497
AutoresVívian Pedigone Cintra, Luciana Cardoso Bonadia, Helen Maia Tavares de Andrade, Milena de Albuquerque, Mayara Ferreira Eusébio, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcus Vinícius Magno Gonçalves, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Prado, Leonardo Cruz de Souza, Mário Emílio Teixeira Dourado Júnior, Acary Souza Bullé Oliveira, Vítor Tumas, Marcondes C. França, Wilson Marques,
Tópico(s)Parkinson's Disease Mechanisms and Treatments
ResumoG4C2 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.
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