Linked Life Data

16774812

Source:http://linkedlifedata.com/resource/pubmed/id/16774812

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2006-10-9
pubmed:abstractText
Alexander disease is a rare disorder of the central nervous system caused by a de novo mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar signs. Herein, we report a 9-year old Japanese girl suffering from frequent vomiting, slurred speech and truncal ataxia. Juvenile Alexander disease was diagnosed by genetic analysis, which detected a novel GFAP mutation, D360V. We also describe our clinical success in treating this patient with thyrotropin releasing hormone (TRH).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
663-7
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
TRH therapy in a patient with juvenile Alexander disease.
pubmed:affiliation
Tokyo Women's Medical University, School of Medicine, Department of Pediatrics, 8-1 Kawadacho, 162-8666 Shinjuku-ku, Tokyo, Japan. keig3@almond.ocn.ne.jp
pubmed:publicationType
Journal Article, Case Reports