Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage, that is a condition associated with diffuse leukoencephalopathy and ocular malformations.
Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N
タイトル
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
