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The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.
Lavigne-Moreira, Carolina; Marques, Vanessa D; Gonçalves, Marcus V M; de Oliveira, Mauricio F; Tomaselli, Pedro J; Nunez, José C; do Nascimento, Osvaldo J M; Barreira, Amilton A; Marques, Wilson.
Afiliação
  • Lavigne-Moreira C; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Marques VD; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Gonçalves MVM; Department of Neurology, UNIVILLE, Joinville, SC, Brazil.
  • de Oliveira MF; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Tomaselli PJ; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Nunez JC; Department of Neurophysiology, Neurocenter, Santa Cruz, Bolivia.
  • do Nascimento OJM; Department of Neurology, Antonio Pedro University Hospital/Federal Fluminense University, Rio de Janeiro, RJ, Brazil.
  • Barreira AA; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Marques W; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
J Peripher Nerv Syst ; 23(2): 134-137, 2018 06.
Article em En | MEDLINE | ID: mdl-29520877
To present the genetic heterogeneity of a sample of the Brazilian population with transthyretin (TTR) mutations. This cohort study was descriptive and retrospective, and enrolled patients with peripheral neuropathy of unknown cause that were found to have a mutation in the TTR gene during the process of etiological investigation, between July 1997 to January 2016. Over the study period, 129 point mutations were identified in 448 tested patients, of whom 128 were of Brazilian origin. The TTR Val30Met mutation was identified in 116 patients (90.6%); while 7 (4.7%) patients had a pathogenic non-TTR mutation and 7 (4.7%) carried non-pathogenic mutations (4.7%). The four non-TTRMet30 pathogenic mutations were TTR Aps38Tyr; TTR Ile107Val; TTR Val71Ala; and TTR Val122Ile. In the non-pathogenic group, we only found two mutations, including TTR Gly6Ser and TTR Thr119Thr. Our study depicts a scenario of greater genetic heterogeneity among Brazilian hereditary transthyretin amyloidosis (hATTR) patients with familial amyloidotic polyneuropathy (FAP). We expect that this number will grow fast over a short period of time, due to increasing availability of genetic tests, increasing knowledge of the disease and the multivariate origin of our population.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pré-Albumina / Heterogeneidade Genética / Neuropatias Amiloides Familiares / Mutação Tipo de estudo: Observational_studies Limite: Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pré-Albumina / Heterogeneidade Genética / Neuropatias Amiloides Familiares / Mutação Tipo de estudo: Observational_studies Limite: Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos