Linked Life Data

12757085

Source:http://linkedlifedata.com/resource/pubmed/id/12757085

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-5-21
pubmed:abstractText
The author reports the first Thai patient with a rare inherited ataxic disorder characterized by intermittent episodes of ataxia, headache and vertigo. The patient was well between attacks despite persistent nystagmus on examination. Magnetic resonance imaging of the brain revealed cerebellar atrophy. All symptoms were ameliorated by acetazolamide therapy. This clinical syndrome was previously described as acetazolamide-responsive episodic ataxia which was subsequently shown to be associated with mutations in a alpha1A-subunit of P/Q type voltage-gated calcium channel gene, known as 'episodic ataxia type 2'. Clinical and molecular aspects of episodic ataxia type 2 were also reviewed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0125-2208
pubmed:author
pubmed:issnType
Print
pubmed:volume
86
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
376-80
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Episodic ataxia type 2: an uncommon inherited CNS channelopathies.
pubmed:affiliation
Division of Neurology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
pubmed:publicationType
Journal Article, Case Reports