title: Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.
abstract: BACKGROUND
  Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes.
  
  
  METHODS
  We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test.
  
  
  RESULTS
  Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions.
  
  
  CONCLUSIONS
  Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.
authors.affiliation: Genetic Unit, Infant Neurological Unit of the Children's Institute of Hospital das Clinicas, University of Sao Paulo, Brazil.
authors.forename: L M
authors.initials: LM
authors.lastname: Albano
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: D
authors.initials: D
authors.lastname: Bertola
authors.forename: S M
authors.initials: SM
authors.lastname: Sugayama
authors.forename: M J
authors.initials: MJ
authors.lastname: Marques-Dias
authors.forename: F
authors.initials: F
authors.lastname: Kok
authors.forename: I
authors.initials: I
authors.lastname: Ferraretto
authors.forename: S
authors.initials: S
authors.lastname: Rosemberg
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: A
authors.initials: A
authors.lastname: Monticelli
mesh_terms: D017668:Age of Onset; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*