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Friedreich’s ataxia (FA) is the most common inherited ataxia.1 It is autosomal recessive and manifests with early onset limb and gait ataxia. Associated features are absent reflexes, extensor plantar responses, pyramidal weakness, dysarthria, vibration and proprioceptive loss, and electrophysiologic evidence of an axonal sensory neuropathy. However, there can be considerable phenotypic variation in up to 25% of all cases,1 such as late onset (LOFA; 25 to 39 years) or very late onset (VLOFA; ≥40 years) ataxia, retained reflexes, and slow progression. We report a man with pathologic GAA expansions in both alleles of the frataxin gene who had the unusual combination of spastic tetraparesis without clinical evidence of cerebellar ataxia or sensory neuropathy and a very delayed age (49 years) at symptom onset.
Case report.
A 51-year-old man presented with a 11/2-year history of lower limb spasticity. There were no sensory, sphincter, or visual disturbances and no history of …
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