Uncommon features in Cuban families affected with Friedreich ataxia.
Neurosci Lett
; 472(2): 85-9, 2010 Mar 19.
Article
en En
| MEDLINE
| ID: mdl-20109528
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia de Friedreich
/
Proteínas de Unión a Hierro
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Caribe
/
Cuba
Idioma:
En
Revista:
Neurosci Lett
Año:
2010
Tipo del documento:
Article
País de afiliación:
Cuba