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What is the pathophysiology of hthtra1-related CARASIL?

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke, spondylosis deformans, and alopecia.

What is the causative gene for CARASIL?

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral artery disease. The HtrA serine protease 1 (HTRA1) gene has been identified as the causative gene of CARASIL. Here, we report a novel mutation in the HTRA1 gene in a CA …

What is the HTRA1 gene?

Learn more The HTRA1 gene provides instructions for making a protein that is found in many of the body's organs and tissues. This protein is a type of enzyme called a serine protease, which has an active center that cuts (cleaves) other proteins into smaller pieces.

What is the difference between CARASIL and htra1-related CSVD?

Although patients with heterozygous HTRA1-related CSVD (symptomatic carriers) are reported to have a milder form of CARASIL, little is known about the clinical and genetic differences between the two diseases.

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