Uncommon features in Cuban families affected with Friedreich ataxia

Neuroscience Letters
Tania Cruz-MariñoLuis Velázquez-Perez

Abstract

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.

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Citations

Jan 26, 2011·Journal of Genetic Counseling·Tania Cruz MariñoLuis Velázquez Pérez
May 16, 2013·Journal of Community Genetics·Tania Cruz-MariñoMilena Paneque
Oct 8, 2013·The Cerebellum·Luis Velázquez-PérezJonathan J Magaña
Apr 23, 2014·Human Gene Therapy·Marguerite V Evans-GaleaMartin B Delatycki
Apr 1, 2013·JBJS Case Connector·Jennifer LeightonRon El-Hawary
Jan 26, 2020·The Cerebellum·Luis Velázquez-PérezUNKNOWN Cuban Hereditary Ataxias Network

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