Genetic epidemiology of familial ALS in Brazil

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dc.contributor.authorDourado Junior, Mário Emílio Teixeira
dc.contributor.authorGonçalves, João Pedro Nunes
dc.contributor.authorLeoni, Tauana Bernardes
dc.contributor.authorMartins, Melina Pazian
dc.contributor.authorPeluzzo, Thiago Mazzo
dc.contributor.authorSaute, Jonas Alex M.
dc.contributor.authorCovaleski, Anna Paula Paranhos Miranda
dc.contributor.authorOliveira, Acary Souza Bulle de
dc.contributor.authorClaudino, Rinaldo
dc.contributor.authorMarques Jr, Wilson
dc.contributor.authorNucci, Anamarli
dc.contributor.authorFrança Jr, Marcondes C.
dc.contributor.authorIDhttps://orcid.org/0000-0002-9462-2294pt_BR
dc.date.accessioned2023-07-25T18:41:03Z
dc.date.available2023-07-25T18:41:03Z
dc.date.issued2021
dc.description.resumoMany genes associated with familial forms of the amyotrophic lateral sclerosis (fALS) have been identified in European and North American cohorts. However, little is known about the genetic bases of fALS in Latin America and Brazil, in particular. To address this question, we recruited 107 patients with fALS from 93 unrelated families from Southeastern, Southern, and Northeastern regions of the country. A 3-step diagnostic approach was used: 1) Triplet repeat primed polymerase chain reaction to search for C9orf72 expansions, then 2) fragment digestion to search for the c.166 C>T VAPB variant, and finally, 3) whole exome sequencing for those who tested negative. We identified the genetic cause for fALS in 70% of the families. VAPB and C9orf72 were the most frequent genes (30% and 22%, respectively), followed by SOD1, TARDBP, ANXA11, and FUS. Five novel variants in known ALS genes were found, including the SOD1 Val120Leu and ANXA11 Asp40Tyr, which were seen in 2 unrelated families each. In conclusion, VAPB and then C9orf72 are the genes most commonly related to fALS in Brazil.pt_BR
dc.identifier.citationGONÇALVES, João Pedro Nunes; LEONI, Tauana Bernardes; MARTINS, Melina Pazian; PELUZZO, Thiago Mazzo; DOURADO, Mario Emílio T.; SAUTE, Jonas Alex M.; COVALESKI, Anna Paula Paranhos Miranda; OLIVEIRA, Acary Souza Bulle de; CLAUDINO, Rinaldo; MARQUES, Wilson. Genetic epidemiology of familial ALS in Brazil. Neurobiology Of Aging, [S.L.], v. 102, p. 227-227, jun. 2021. Elsevier BV. http://dx.doi.org/10.1016/j.neurobiolaging.2021.01.007. Disponível em: https://www.sciencedirect.com/science/article/pii/S0197458021000142?via%3Dihub. Acesso em: 13 jul. 2023.pt_BR
dc.identifier.doihttps://doi.org/10.1016/j.neurobiolaging.2021.01.007
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/54159
dc.languageenpt_BR
dc.publisherElsevierpt_BR
dc.subjectamyotrophic lateral sclerosispt_BR
dc.subjectgeneticspt_BR
dc.subjectwhole exome sequencingpt_BR
dc.subjectVAPBpt_BR
dc.titleGenetic epidemiology of familial ALS in Brazilpt_BR
dc.typearticlept_BR

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