Two proα1 (IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2
(IV) chain encoded by COL4A2 and are the major component of the basement membrane in …

Aim To describe the clinical and radiological features of four new families with a childhood
presentation of COL4A1 mutation. Method We retrospectively reviewed the clinical …

Background and Purpose—A number of single gene disorders can cause cerebral small
vessel disease. Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain …

Objective: To better delineate the clinical spectrum and the natural history of COL4A1
mutations, a newly defined genetic cause of small vessel disease including the brain and …

Background and Purpose—Recently COL4A1, a gene encoding the type IV collagen α1
chain, has been found to be involved in families with autosomal-dominant porencephaly and …

Background: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular
accidents from various causes. Several familial cases have been described and autosomal …

Objective: Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly
inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 …

Collagen, type IV, alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers and are
abundant components of basement membranes, including those of the cerebral vasculature …

Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the
spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV …

Abstract Objective: Recently, COL4A1 mutations have been reported in porencephaly and
other cerebral vascular diseases, often associated with ocular, renal, and muscular features …