Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 14, Issue 2, Pages 182-187Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2009.04.010
Keywords
Leukoencephalopathy; Collagen 4A1; Mutation; Cataracts
Categories
Ask authors/readers for more resources
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 (C) 2009 European Paediatric Neurology Society Published by Elsevier Ltd All rights reserved
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available