COL4A1 mutations and stroke

Vahedi et al. Neurology 2007; 69: 1564-8
and editorial
Meschia JF and Rosand J. Fragile vessels handle with care Neurology 2007; 69: 1560-1561

COL4A1 gives the brain resistance to minor head trauma. It encodes the gene for collagen alpha 1. Human conditions linked to a mutation include autosomal dominant porencephaly, retinal arteriolar tortuosities, and traumatic or antithrombotic associated symptomatic cerebral hemorrhages and otherwise undetected microhemorrhages on MRI. MRI can also show diffuse leukoencephalopathy and enlarged perivascular spaces. The report by Vahedi includes a patient who died of subarachnoid hemorrhage and another who died at age 40 of anticoagulation associated hemorrhage.

The editorial authors compare the condition to CADASIL insofar as many different mutations can cause the condition. The theme of trauma or injuries to vessels as triggers to hemorrhage recurs. Treatment of affected patients may including withholding antithrombotics or anticoagulants, avoiding contact sports, genetic screening in pregnancy, and of family members (including asking specifically about congenital hemiplegia rather than "porencephaly"), periodic screening with MRI's, further evaluating tortuous vessels seen on funduscopy and others.