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.

journal_name

Neurology

journal_title

Neurology

authors

Orozco Diaz G,Nodarse Fleites A,Cordovés Sagaz R,Auburger G

doi

10.1212/wnl.40.9.1369

subject

Has Abstract

pub_date

1990-09-01 00:00:00

pages

1369-75

issue

9

eissn

0028-3878

issn

1526-632X

journal_volume

40

pub_type

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