Linked Life Data

3463881

Source:http://linkedlifedata.com/resource/pubmed/id/3463881

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1986-11-10
pubmed:abstractText
A female child and her father with cerebellar ataxia and retinitis pigmentosa are described. The father's clinical onset was in middle age, the course of his disease mild and his pneumoencephalogram showed cerebellar atrophy. On the other hand, his daughter's clinical onset was in late infancy, her course was rapidly progressive with manifestations of brainstem dysfunction. She had abnormal brainstem auditory evoked potentials and the computerized tomography scan showed atrophy of the posterior fossa. Recently a paternal aunt developed cerebellar ataxia at the age of fifty. The unusual early age of onset of dominantly inherited cerebellar ataxia and the extreme variation in expression of clinical manifestation are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
165-7
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Familial ataxia with extreme difference in age of clinical onset.
pubmed:publicationType
Journal Article, Case Reports