Hereditary cerebral small vessel disease; CADASIL and CARASIL

Ikuko Mizuta, Toshiki Mizuno

Department of Neurology, Kyoto Prefectural University of Medicine

Hereditary small vessel diseases are characterized by early and progressive dementia, without vascular risk factors. Major two known hereditary small vessel diseases, CADASIL and CARASIL, are reviewed concisely. Family history, white matter lesion, migraine (CADASIL), juvenile alopecia and back pain (CARASIL) are helpful information to suspect these diseases. Pathological studies in the arterioles found thickened wall and severe degeneration of smooth muscles, suggesting failure of cerebral blood flow regulation. For developing vessel-oriented treatment, it will be benefit to uncover the pathophysiological link between the causative genes, NOTCH3 (CADASIL) and HTRA1 (CARASIL), and vessel pathology.

Address correspondence to Dr. Toshiki Mizuno, Department of Neurology, Kyoto Prefectural University of Medicine(465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan)