Research Paper: 2009 Rouaud
Date Published : 08/24/2010
Summary: ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION.
Abstract: The gene COL4A1 encodes the a1 chain of type IV collagen, a basement-membrane protein implying vascular parietal strength. Mutations in the gene COL4A1 have been described in families with diffuse small-vessel disease of the brain, resulting in perinatal stroke, congenital porencephaly, extensive leukoen-cephalopathy, intracerebral hemorrhage, and retinal arteriolar tortuosity.1-4 Our observation extends the clinical and magnetic resonance (MR) phenotype of COL4A1 mutation.
