The frequency of the C9orf72 expansion in a Brazilian population

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.

Source: Neurobiology of Aging - January 19, 2018 Category: Neuroscience Authors: V ívian Pedigone Cintra, Luciana Cardoso Bonadia, Helen Maia T. Andrade, Milena de Albuquerque, Mayara Ferreira Eusébio, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcus Vinicius Magno Gonçalves, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Pra Tags: Genetic reports abstract Source Type: research