Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

Abstract

We describe 263 patients with autosomal dominant cerebellar ataxia from the Holguín 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.