CARASIL

CARASIL is a rare autosomal recessive small-vessel disease caused by mutations in the HTRA1 gene. It is characterized by early-onset strokes, cognitive impairment, alopecia, and spondylosis. Pathophysiology involves degradation of extracellular matrix proteins, leading to arteriole degeneration and subcortical ischemic lesions. Diagnosis is confirmed through genetic testing and neuroimaging showing diffuse leukoencephalopathy. Management is largely supportive; prognosis is poor due to progressive neurological decline.