Neuropsychiatric Symptoms of CADASIL

Abstract

CADASIL is an inherited small artery disease caused by mutations of the N0TCH3 gene. The disease is responsible for migraine with aura at onset, for transient ischemic attacks and stroke during mid-adulthood, and can lead progressively to dementia. The neuropsychiatric manifestations of CADASIL include mood and behavior disturbances and various degrees of cognitive impairment. They are observed at all stages of the disorder. Episodes of mood disturbances (depression, manic episodes) are reported in 10-20 % of patients during the course of the disease; they are usually observed after the first ischemic events. Apathy is detected in more than one-third of patients several years after onset and alters the quality of life of patients. A marked decline of cognitive performances is detected in the vast majority of subjects with aging, particularly after age 50 years. However, executive dysfunction can be detected earlier, even after the third decade using dedicated cognitive tests. Dementia occurs after 60 years, usually after repeated ischemic event, and is nearly constant at the end stage of the disorder. (PsycInfo Database Record (c) 2022 APA, all rights reserved)