Research Paper: 2007 Vahedi
Date Published : 05/01/2007
Summary: COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage.
Abstract: 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.
