The frequency of the C9orf72 expansion in a Brazilian population.

doi:10.1016/j.neurobiolaging.2018.01.007

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Article

The frequency of the C9orf72 expansion in a Brazilian population.

Neurobiology of aging - 1 Jun 2018

Cintra Vívian Pedigone, Bonadia Luciana Cardoso, Andrade Helen Maia T, de Albuquerque Milena, Eusébio Mayara Ferreira, de Oliveira Daniel Sabino, Claudino Rinaldo, Gonçalves Marcus Vinicius Magno, Teixeira Antônio Lúcio, de Godoy Rousseff Prado Laura, de Souza Leonardo Cruz, Dourado Mario Emilio Teixeira, Oliveira Acary Souza Bulle, Tumas Vitor, França Marcondes C, Marques Wilson

Abstract excerpt

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...

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PMID: 29449030
DOI: 10.1016/j.neurobiolaging.2018.01.007

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