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Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2founder effect in Holguin
Velázquez Pérez, Luis; Sánchez Cruz, Gilberto; Santos Falcón, Nieves; Almaguer Mederos, Luis Enrique; Escalona Batallan, Karel; Rodríguez Labrada, Roberto; Paneque Herrera, Milena; Laffita Mesa, Josè Miguel; Rodríguez Díaz, Julio C; Aguilera Rodríguez, Raùl; González Zaldivar, Yanetza; Coello Almarales, Dany; Almaguer Gotay, Dennis; Cedeño, Humberto Jorge.
Afiliação
  • Velázquez Pérez, Luis; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Sánchez Cruz, Gilberto; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Santos Falcón, Nieves; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Almaguer Mederos, Luis Enrique; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Escalona Batallan, Karel; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Rodríguez Labrada, Roberto; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Paneque Herrera, Milena; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Laffita Mesa, Josè Miguel; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Rodríguez Díaz, Julio C; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Aguilera Rodríguez, Raùl; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • González Zaldivar, Yanetza; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Coello Almarales, Dany; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Almaguer Gotay, Dennis; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
  • Cedeño, Humberto Jorge; Centre for the Research and Rehabilitation of the Hereditary Ataxias. Holguìn. Cuba
Neurosci Lett ; (454): 157-160, 2009. graf, tab
Article em En | CUMED | ID: cum-42351
Biblioteca responsável: CU422.1
ABSTRACT
The objective of this study was to determine the prevalence of hereditaryataxias in Cuba, with a specialfocus on the clinical and molecular features of SCA2. Clinical assessmentswere performed by neurologicalexaminations and application of the SARA scale. Molecular analyses ofgenes SCA1–3, SCA6, SCA17and DRPLA identified 753 patients with SCA and 7173 asymptomaticrelatives, belonging to 200 unrelatedfamilies. 86.79 percent of all SCA patients were affected with SCA2. In the Holguin province, the averagepopulation prevalence of SCA2 is 40.18×105 inhabitants, with theremarkable figure of 141.66×105 inthe Baguanos municipality. The high prevalence of the SCA2 mutation inHolguin reflects most likelya founder effect. The stabilization of the prevalence along time suggeststhe existence of premutatedchromosomes with pure CAG, acting as reservoir for further expansions. CAGrepeat length correlatedinversely with age at onset, accounting for 80 percent of the variability. Genetic anticipation was observed in the 80 percent of transmissions. Repeat instability was greater in paternaltransmissions whereas CAG expansionswithout anticipation was observed in 10.97 percent suggesting the effect of CAA interruptions in the CAGsegment, which decrease the toxicity of the abnormal ataxin-2, and/orother protective factors...(AU)
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Coleções: 06-national / CU Base de dados: CUMED Assunto principal: Degenerações Espinocerebelares / Ataxias Espinocerebelares Tipo de estudo: Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: Cuba Idioma: En Revista: Neurosci Lett Ano de publicação: 2009 Tipo de documento: Article
Buscar no Google
Adicionar na Minha BVS
Imprimir
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Coleções: 06-national / CU Base de dados: CUMED Assunto principal: Degenerações Espinocerebelares / Ataxias Espinocerebelares Tipo de estudo: Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: Cuba Idioma: En Revista: Neurosci Lett Ano de publicação: 2009 Tipo de documento: Article