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We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar degeneration.Gait ataxia,presenting between 38 and 45 years,was the first symptom in all three patients.Dysarthria, dysmetria,brisk tendon reflexes,extensor plantar response,and scoliosis were constant features.Disease progression was slow.Electrophysiologic studies demonstrated a slight reduction in sural nerve sensory action potential in only one patient.Analysis of GAA expansion within the X25 gene showed that patients with homozygous for the expansion,with the shorter expanded allele ranging from 120 to 156 triplets.The site of GAA expansion may be smaller than we previously described.Such minimal expansion may result in atypical forms of Friedreich's ataxia. |
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