Uncommon features in Cuban families affected with Friedreich ataxia

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, pr...

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Bibliographic Details
Published in:Neuroscience letters 2010-03, Vol.472 (2), p.85-89
Main Authors: Cruz-Mariño, Tania, González-Zaldivar, Yanetza, Laffita-Mesa, Jose Miguel, Almaguer-Mederos, Luis, Aguilera-Rodríguez, Raul, Almaguer-Gotay, Dennis, Rodríguez-Labrada, Roberto, Canales-Ochoa, Nalia, MacLeod, Patrick, Velázquez-Pérez, Luis
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Case report
Cuba
Female
Frataxin
Friedreich ataxia
Friedreich Ataxia - genetics
Friedreich Ataxia - physiopathology
Fundamental and applied biological sciences. Psychology
Humans
Iron-Binding Proteins - genetics
Male
Molecular diagnosis
Molecular Diagnostic Techniques
Pedigree
Recessive ataxia
Trinucleotide Repeat Expansion
Vertebrates: nervous system and sense organs
Young Adult
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Summary: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.
ISSN:0304-3940
1872-7972
DOI:10.1016/j.neulet.2010.01.045