Uncommon features in Cuban families affected with Friedreich ataxia

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• 作者：Tania Cruz-Mariñ ; o ; Yanetza Gonzá ; lez-Zaldivar ; Jose Miguel Laffita-Mesa ; Luis Almaguer-Mederos ; Raul Aguilera-Rodrí ; guez ; Dennis Almaguer-Gotay ; Roberto Rodrí ; guez-Labrada ; Nalia Cana
• 关键词：Friedreich ataxia ; Recessive ataxia ; Molecular diagnosis ; Case report
• 刊名：Neuroscience Letters
• 出版年：2010
• 出版时间：19 March 2010
• 年：2010
• 卷：472
• 期：2
• 页码：85-89
• 全文大小：433 K

文摘

This report describes two families who presented with autosomal recessive ataxia. By means of Polymerase Chain Reaction (PCR) molecular testing we identified expansions in the gene encoding Frataxin (FTX) that is diagnostic of Friedreich ataxia. A history of reproductive loss in the two families, prominent scoliosis deformity preceding the onset of ataxic gait, the presence of a sensitive axonal neuropathy, as well as the common origin of ancestors are unusual features of these families. These cases illustrate the importance of molecular diagnosis in patients with a recessive ataxia. The origin of the expanded gene and the GAA repeat size in the normal population are issues to be further investigated. The molecular diagnosis of Friedreich ataxia is now established in Cuba.