| dc.contributor | https://orcid.org/0000-0002-9462-2294 | |
| dc.creator | Dourado Junior, Mário Emílio Teixeira | |
| dc.creator | Cintra, Vívian Pedigone | |
| dc.creator | Bonadia, Luciana Cardoso | |
| dc.creator | Eusébio, Mayara Ferreira; et al. | |
| dc.date | 2023-07-27T19:06:39Z | |
| dc.date | 2023-07-27T19:06:39Z | |
| dc.date | 2018 | |
| dc.date.accessioned | 2023-09-04T12:09:05Z | |
| dc.date.available | 2023-09-04T12:09:05Z | |
| dc.identifier | DOURADO JUNIOR, Mário Emílio Teixeira, et al. The frequency of the C9orf72 expansion in a Brazilian population. Neurobiology Of Aging, [S.L.], v. 66, p. 179.1-179.4, jun. 2018. Elsevier BV. http://dx.doi.org/10.1016/j.neurobiolaging.2018.01.007. Disponível em: https://www.sciencedirect.com/science/article/pii/S0197458018300150?via%3Dihub. Acesso em: 19 jul. 2023. | |
| dc.identifier | https://repositorio.ufrn.br/handle/123456789/54234 | |
| dc.identifier | https://doi.org/10.1016/j.neurobiolaging.2018.01.007 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8599320 | |
| dc.description | 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. | |
| dc.language | en | |
| dc.publisher | Elsevier | |
| dc.subject | repeat expansion | |
| dc.subject | amyotrophic lateral sclerosis | |
| dc.subject | frontotemporal dementia | |
| dc.subject | neurodegenerative diseases | |
| dc.title | The frequency of the C9orf72 expansion in a Brazilian population | |
| dc.type | article | |
