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

rare

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.

Causal genes
HTRA1
Also known as
CARASIL · CARASIL syndrome · CARASIL2 · cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy · cerebrovascular disease with thin skin, alopecia, and disc disease

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