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

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, adiadochokine...

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Bibliographic Details
Published in:	Neurology Vol. 40; no. 9; pp. 1369 - 1375
Main Authors:	Orozco Diaz, G, Nodarse Fleites, A, Cordovés Sagaz, R, Auburger, G
Format:	Journal Article
Language:	English
Published:	United States 01-09-1990
Subjects:	Adolescent Adult Aged Cerebellar Ataxia - genetics Child Child, Preschool Cuba Female Genes, Dominant Humans Male Middle Aged Pedigree Phenotype Cuba
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-3878
DOI:	10.1212/WNL.40.9.1369