Autosomal dominant cerebellar ataxia

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Abstract
We describe 263 patients with autosomal dominant cerebellar ataxia from the Holguin province, Cuba. There is evidence of a common ancestry and the population represents the largest homogeneous group of patients yet described. Primary features include gait ataxia, dysarthria, dysmetria, adiadochokinesia, cramps, tremor, hypotonia, abnormal reflexes, and slowed/limited eye movements. Age at onset ranged from 2 to 65 years. There was considerable clinical variability within the families. No patients had optic atrophy, spasticity, pigmentary retinal degeneration, or cogwheel rigidity, and only 1 had dementia.

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