A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.

摘要

Cerebral autosomal recessive arteriopathy with subcor-tical infarcts and leukoencephalopathy (CARASIL) (MIM 600142) is a heritable small vessel disease clinically characterized by nonhypertensive leukoencephalopathy associated with alopecia and spondylosis. First described by Maeda et al. in 1965, cases exclusively come from Japan and China. Beginning in young adulthood, patients develop progressive motor and cognitive impairment and usually die within 10 years. Centrifugally enlarged arteries with widespread loss of both medial smooth muscle cells and mural extracellular matrix are observed in the white matter and leptomeninges. In July 2009, Hara et al. described the HtrA serine protease 1 gene (HTRA1) as the causative gene of CARASIL. Here we report for the first time a Caucasian patient with CARASIL harboring a novel HTRA1 mutation.