title: Clinical and molecular studies in five Brazilian cases of Friedreich ataxia.
abstract: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich's ataxia is broader than previously recognised and includes cases with intact tendon reflexes.
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brasil. ida@ez-poa.com.br
authors.forename: I V
authors.initials: IV
authors.lastname: Schwartz
authors.forename: L B
authors.initials: LB
authors.lastname: Jardim
authors.forename: A C
authors.initials: AC
authors.lastname: Puga
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: S
authors.initials: S
authors.lastname: Leistner
authors.forename: L C
authors.initials: LC
authors.lastname: Lima
mesh_terms: D000328:Adult; D001938:Brazil; D002648:Child; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D019680:Trinucleotide Repeat Expansion