2010 Rouaud


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.

File Download: 2010 Rouaud

Publish Date: 24 August 2010

Gould Syndrome Foundation