Linked Life Data

10198907

Source:http://linkedlifedata.com/resource/pubmed/id/10198907

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-4-16
pubmed:abstractText
We reported a 73-year-old woman of spinocerebellar ataxia 6 (SCA 6). There was no family history of neurological diseases. She demonstrated cerebellar ataxia and scanning speech at the age of 48. These symptoms gradually developed. Brain MRI showed severe cerebellar atrophy and no abnormality in the brain stem. Her neurological symptoms and MRI findings were compatible with cerebellocortical atrophy (CCA). Analysis of the CACNL1A4 gene on chromosome 19p 13 demonstrated she had an expanded allele with 27 CAG repeats. Therefore, she was diagnosed with SCA 6. In spite of her large CAG expansion, there was no family history of SCA 6 in this case. SCA 6 needs to be ruled out in cases of clinical CCA.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0006-8969
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
167-70
pubmed:dateRevised
2007-2-22
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
[A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene].
pubmed:affiliation
Department of Neurology, Sumitomo Hospital, Osaka, Japan.
pubmed:publicationType
Journal Article, English Abstract, Case Reports