Linked Life Data

3239952

Source:http://linkedlifedata.com/resource/pubmed/id/3239952

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1989-5-2
pubmed:abstractText
We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia-telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia-telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
497-502
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
pubmed:affiliation
INSERM Hôpital des Enfants Malades, Paris, France.
pubmed:publicationType
Journal Article, Case Reports