Linked Life Data

17024314

Source:http://linkedlifedata.com/resource/pubmed/id/17024314

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2006-11-22
pubmed:abstractText
Spinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxias caused by mutations in the protein kinase Cgamma gene (PRKCG). We have identified a Japanese patient with SCA14 who carried the Gly128Asp mutation in PRKCG. She first noticed gait unsteadiness at around age 42, and then her gait ataxia worsened very slowly for more than 20 years. At age 62, she was still ambulatory, although cerebellar ataxia was clinically evident. She is the second patient identified with the G128D mutation. Both patients with this mutation showed pure cerebellar ataxia. With only two families with SCA14 found in Japan prior to this study, the clinical features and disease-causing mutations in PRKCG are heterogeneous in the same ethnic background.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1118-21
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
A Japanese case of SCA14 with the Gly128Asp mutation.
pubmed:affiliation
Department of Medicine (Neurology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't