cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy is a rare hereditary cerebral artery disease.Here we report a novel HTRA1 gene mutation caused CARASIL with peripheral vascular changes.Methods The patient was a 34-year-old women.She suffered from myalgia with cramp for 16 years, lumbago for 5 years, migraine and mild alopecia for 3 years, right hemiparesis for 5 months, and urinary retention and constipation for 1 month.Vertebral MRI showed degeneration of vertebral bodies with disc herniations.Brain MRI revealed diffuse white matter lesions with lacunar infarcts.Sural nerve and skin biopsies were performed in the patient.HTRA1 gene analysis was performed in the patient, her parents and 2 brothers as well as 100 healthy controls.Results The sural biopsy demonstrated discontinuousof elastica internal with thickness of intima of arterioles.The capillary basement membranes were thickness with granular changes.A homozygous T to A transition at position 524(c.524T>A) was found in HTRA1 gene.The heterozygous c.524T>A mutation appeared in the parents and 2 brothers, but not in healthy controls.Conclusion CARASIL caused by novel homozygous c.524T>A mutation of HTRA 1 gene can present with peripheral vascular lesions.