title: Uncommon features in Cuban families affected with Friedreich ataxia.
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.
authors.affiliation: Center of Medical Genetics, Holguín, Cuba. taniacmarin@infomed.sld.cu
authors.forename: Tania
authors.initials: T
authors.lastname: Cruz-Mariño
authors.forename: Yanetza
authors.initials: Y
authors.lastname: González-Zaldivar
authors.forename: Jose Miguel
authors.initials: JM
authors.lastname: Laffita-Mesa
authors.forename: Luis
authors.initials: L
authors.lastname: Almaguer-Mederos
authors.forename: Raul
authors.initials: R
authors.lastname: Aguilera-Rodríguez
authors.forename: Dennis
authors.initials: D
authors.lastname: Almaguer-Gotay
authors.forename: Roberto
authors.initials: R
authors.lastname: Rodríguez-Labrada
authors.forename: Nalia
authors.initials: N
authors.lastname: Canales-Ochoa
authors.forename: Patrick
authors.initials: P
authors.lastname: Macleod
authors.forename: Luis
authors.initials: L
authors.lastname: Velázquez-Pérez
mesh_terms: D000293:Adolescent; D000328:Adult; D003462:Cuba; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics*; D008297:Male; D025202:Molecular Diagnostic Techniques; D010375:Pedigree; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin