Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant (PADMAL)

Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant, also known as padmal, is related to cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include pons and brain, and related phenotypes are hyperintensity of cerebral white matter on mri and cognitive impairment