Linked Life Data

12944715

Source:http://linkedlifedata.com/resource/pubmed/id/12944715

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-8-28
pubmed:abstractText
The recent discovery of heterozygous de novo mutations in the glial fibrillary acidic protein (GFAP) gene as the cause of infantile and juvenile Alexander disease has shed new light on the long-standing debate whether the adult subtype has the same etiology as infantile and juvenile Alexander disease. A 40-year-old man presented with subacute left hemiplegia and ataxia. Cranial MRI revealed disseminated patchy white matter changes involving the corpus callosum, basal ganglia and brainstem. CSF investigation demonstrated elevated total protein but was otherwise normal. Mutation analysis of the GFAP gene was performed in the patient, his mother and healthy brother. A novel heterozygous mutation in exon 4, 681G-->C, predicting an amino acid substitution E223Q in the rod region of GFAP was detected in the patient and his mother but not in his healthy brother or 150 control chromosomes. We conclude that the patient is actually afflicted with Alexander disease. Mutation analysis of GFAP should be considered in patients with remitting neurological deficits, disseminated white matter lesions and absence of inflammatory CSF changes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0014-3022
pubmed:author
pubmed:copyrightInfo
Copyright 2003 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
100-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?
pubmed:affiliation
Department of Pediatrics and Neuropediatrics, University of Göttingen, Göttingen, Germany. kbrock@med.uni-goettingen.de
pubmed:publicationType
Journal Article, Case Reports