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The frequency of the C9orf72 expansion in a Brazilian population.

Abstract：

: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.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Cintra VP,Bonadia LC,Andrade HMT,de Albuquerque M,Eusébio MF,de Oliveira DS,Claudino R,Gonçalves MVM,Teixeira AL Jr,de Godoy Rousseff Prado L,de Souza LC,Dourado MET Jr,Oliveira ASB,Tumas V,França MC Jr,Marques W Jr

doi

10.1016/j.neurobiolaging.2018.01.007

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

179.e1-179.e4

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(18)30015-0

journal_volume

66

pub_type

杂志文章

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