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Age dependent risks in genetic counselingfor spinocerebellar ataxia type 2
Almaguer Mederos, LE; Proenza, CL; Rodrìguez Almira, Y; Velàsquez Pèrez, L; Escalona Batallàn, K; Santos Falcòn, N; Martìnez Gòngora, E; Paneque Herrera, M; Cuello Almarales, D.
Afiliação
  • Almaguer Mederos, LE; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Proenza, CL; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Rodrìguez Almira, Y; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Velàsquez Pèrez, L; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Escalona Batallàn, K; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Santos Falcòn, N; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Martìnez Gòngora, E; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Paneque Herrera, M; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
  • Cuello Almarales, D; Center for Investigation and Rehabilitation of Hereditary Ataxias. Holguìn. Cuba
Clin Genet ; 74: 571-573, 2008. graf, tab
Article em En | CUMED | ID: cum-42343
Biblioteca responsável: CU422.1
ABSTRACT
Spinocerebellar ataxia type 2 (SCA2, OMI health, reproductive, financial matters, and183090) belongs to a group of hereditary family planning. Therefore, we undertook a sur-neurodegenerative diseases caused by the expan- vey of the age of onset in a cohort of SCA2sion of a CAG repeat tract in coding regions of patinovel genes. This group includes Huntingtonsdisease (HD), spinal and bulbar muscularatrophy (SBMA), dentatorubral-pallidoluysianatrophy, and the spinocerebellar ataxias type 1,3, 6, 7, and 17 (1). These mutations show a veryhigh penetrance, and they follow an autosomaldominant inheritance pattern with the onlyexception of SBMA (X-linked); each descendantof an affected patient has an a priori risk of 50%.However, it has been proven that the empiric riskof having inherited the mutation causing HD orSCA3 (Machado–Joseph disease) lessens withadvancing age (2, 3). This fact has significantimplications in the genetic counseling of at-riskindividuals. The accuracy and precision that areachieved in the estimate of the risk of developinga certain hereditary illness will have a very...(AU)
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Coleções: 06-national / CU Base de dados: CUMED Assunto principal: Degenerações Espinocerebelares / Ataxias Espinocerebelares Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2008 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: Etiology_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2008 Tipo de documento: Article