Cadasil

Abstract

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is a single gene disorder of the cerebral small blood vessels caused by mutations in NOTCH3 gene. The disease has been recently described and the exact prevalence is unknown currently, but the number of the reported cases is increasing as the clinical picture is better known due to active research work in this field. The main clinical manifestations are recurrent stroke, migraine, psychiatric symptoms, and progressive cognitive impairment. The clinical course is highly variable, that’s why the disorder is often misdiagnosed. The pathological hallmark of the disease is the presence of granular osmiophilic material in the walls of the affected vessels, which can be detected in skin biopsy. The diagnosis is important as the clinical course and the prognosis differ between patients with CADASIL and those with other common cerebral small vessel diseases. Moreover, the usual therapy for ischemic stroke, which includes thrombolytics, antihypertensive agents and statins, has been not validated for CADASIL patients. Conclusion: In the Republic of Moldova was described one family affected by this disease. I will present a family tree which includes three generations, persons that suffered of this disease and age at which the main manifestations appeared. As very little is known about the disease, I think my presentation will clarify how the disease occurs and what can be done and, not less important, will call attention on this issue.