Research Paper: 

2007 Vahedi

Date Published : 

05/01/2007

Summary

COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage

Excerpt

Background and Purpose—Recently COL4A1, a gene encoding the type IV collagen a1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis. In addition to neonatal stroke, some family members had experienced, during adulthood, spontaneous intracerebral hemorrhages (ICHs) and leukoencephalopathy, suggestive of underlying small-vessel disease of the brain. We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation.

COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage
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