Navegando por Palavras-chave "C9orf72"

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    C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
    (Assoc Arquivos Neuro- Psiquiatria, 2015-03-01) Souza, Paulo Victor Sgobbi de [UNIFESP]; Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. in the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.
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    The frequency of the C9orf72 expansion in a Brazilian population
    (Elsevier Science Inc, 2018) Cintra, Vivian Pedigone; Bonadia, Luciana Cardoso; Andrade, Helen Maia T.; Albuquerque, Milena de; Eusebio, Mayara Ferreira; Oliveira, Daniel Sabino de; Claudino, Rinaldo; Goncalves, Marcus Vinicius Magno; Teixeira Junior, Antonio Lucio; Prado, Laura de Godoy Rousseff; Souza, Leonardo Cruz de; Dourado Junior, Mario Emilio Teixeira; Oliveira, Acary Souza Bulle [UNIFESP]; Tumas, Vitor; Franca Junior, Marcondes C.; Marques Junior, Wilson
    G(4)C(2) 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 G(4)C(2) 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 G(4)C(2) 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. (C) 2018 Elsevier Inc. All rights reserved.