DISEASE: Autosomal dominant pontine microangiopathy and leukoencephalopathy
エントリ
H02718
名称
Autosomal dominant pontine microangiopathy and leukoencephalopathy
概要
Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing overproduction of COL4A1, encoding collagen type IV alpha 1 chain, have been identified in patients with this disease. Collagen type IV is one of the components of the brain vascular basement membrane responsible for maintaining mechanical stability.
