title: [Late onset Friedreich ataxia: clinical description of a family in Argentina].
abstract: Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter group is defined as late onset Freidreich ataxia (LOFA). The objective of this work is to present three siblings affected by late onset Friedreich ataxia. Their symptoms began between the ages of 32 and 34, with gait disturbance and dysarthria of cerebellar type, which worsened, thus becoming more evident in the course of 6-12 months. None had musculoskeletal or myocardial involvement. There was no family history of ataxia or other neurological disorders. Two of these patients underwent genetic study that showed abnormal expansion of GAA triplet confirming the diagnosis of FA. A magnetic resonance imaging (MRI) of the brain was performed. Proximal spinal cord atrophy, sparing cerebellar structures, was found in two of the cases and vermian atrophy associated with proximal spinal cord atrophy was observed in the third one. Molecular testing GAA expansions in the FA gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception.
authors.affiliation: Servicio de Neurología, Unidad Asistencial Dr. César Milstein, Buenos Aires.
authors.forename: Manuel
authors.initials: M
authors.lastname: Pérez Akly
authors.forename: Fernando
authors.initials: F
authors.lastname: Alvarez
mesh_terms: D017668:Age of Onset; D018450:Disease Progression; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype
keywords: Friedreich; ataxia; late onset