COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies.

COL4A1 gene mutation – beyond a vascular syndrome

A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

ANTI-A B AUTOANTIBODIES IN THE CSF OF A PATIENT WITH CAA-RELATED INFLAMMATION: A CASE REPORT.