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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
1990-10-2
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0028-3878
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
40
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1369-75
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:2392220-Adolescent,
pubmed-meshheading:2392220-Adult,
pubmed-meshheading:2392220-Aged,
pubmed-meshheading:2392220-Cerebellar Ataxia,
pubmed-meshheading:2392220-Child,
pubmed-meshheading:2392220-Child, Preschool,
pubmed-meshheading:2392220-Cuba,
pubmed-meshheading:2392220-Female,
pubmed-meshheading:2392220-Genes, Dominant,
pubmed-meshheading:2392220-Humans,
pubmed-meshheading:2392220-Male,
pubmed-meshheading:2392220-Middle Aged,
pubmed-meshheading:2392220-Pedigree,
pubmed-meshheading:2392220-Phenotype
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba.
|
| pubmed:affiliation |
Department of Neurology, V.I. Lenin Hospital, Holguín, Cuba.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|