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2018•Neurobiology of AgingOpen access

The frequency of the C9orf72 expansion in a Brazilian population

Vívian 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

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Abstract

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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What this paper is about

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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Available abstract

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.

Key concepts: C9orf72, Amyotrophic lateral sclerosis, Frontotemporal dementia, Proband, Trinucleotide repeat expansion, Population, Dementia, Disease

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