Linked Life Data

19477666

Source:http://linkedlifedata.com/resource/pubmed/id/19477666

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-2-15
pubmed:abstractText
We describe a three generation family with recurrent strokes and cataracts. The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later. His mother had long standing episodic headaches diagnosed as migraine. Grandmother was initially diagnosed with multiple sclerosis and had recurrent strokes at age 18 years and 49 years. MRI scanning showed a diffuse leukoencephalopathy with microhaemorrhages in all three individuals. All of the family members had cataracts but did not have retinal arterial changes. Sequence analysis of COL4A1 revealed the heterozygous missense mutation c.2263G-->A in exon 30, responsible for a glycine-to-arginine substitution (p.Gly755Arg) in both the index case and mother. Grandmother died at the age of 73 years and DNA analysis was not possible. Mutation in COL4A1 should be considered in families with a history of autosomal dominant cerebral vasculopathy, even in the absence of porencephaly.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1532-2130
pubmed:author
pubmed:copyrightInfo
2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
182-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
pubmed:affiliation
Department of Paediatric Neurology, Bristol Royal Hospital for Children, United Kingdom.
pubmed:publicationType
Journal Article, Case Reports