Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

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• 作者：Yanetza Gonz谩lez-Zald铆var ; Yaime茅 V谩zquez-Mojena…
• 关键词：Spinocerebellar ataxia type 3 ; Machado ; Joseph Disease ; SCA3/MJD ; CAG repeats
• 刊名：Cerebellum & Ataxias
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：2
• 期：1
• 全文大小：659KB
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• 作者单位：Yanetza Gonz谩lez-Zald铆var (1)
  Yaime茅 V谩zquez-Mojena (1)
  Jos茅 M Laffita-Mesa (1)
  Luis E Almaguer-Mederos (1)
  Roberto Rodr铆guez-Labrada (1)
  Gilberto S谩nchez-Cruz (1)
  Ra煤l Aguilera-Rodr铆guez (1)
  Tania Cruz-Mari帽o (1)
  Nalia Canales-Ochoa (1)
  Patrick MacLeod (2)
  Luis Vel谩zquez-P茅rez (1)
  
  1. Centre for the Research and Rehabilitation of Hereditary Ataxias (CIRAH), Libertad Street 26, Holgu铆n, Postal code 80100, Cuba
  2. Division of Medical Genetics, Department of Pathology, Laboratory Medicine and Medical Genetics, Victoria General Hospital, Victoria, Canada
  
• 刊物类别：Neurobiology; Neurosciences; Neurology; Neurosurgery;
• 刊物主题：Neurobiology; Neurosciences; Neurology; Neurosurgery;
• 出版者：BioMed Central
• ISSN：2053-8871

文摘

Background Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant ataxia in the world, but its frequency prevalence in Cuba remains uncertain. We undertook a national study in order to characterize the ATXN3 gene and to determine the prevalence of SCA3/MJD in Cuba.