cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2

Description

An autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy caused by a variation in the HTRA1 gene, characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.