The minimum prevalence of CADASIL in northeast England

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary small vessel brain disease, and is caused by mutations in NOTCH3 . The disorder is often overlooked and misdiagnosed, and the population prevalences are generally not known. Over 100 families exist in France, with similar numbers in the United Kingdom,1 and >200 in Germany.2 In Finland, the reported prevalence is 2–4 per 100,000,3 and in west Scotland, 1.98 per 100,000 have a definite diagnosis, and 4.14 per 100,000 are predicted mutation carriers.4 However, both of these study populations include relative genetic isolates. We carried out a study to determine the prevalence of CADASIL in an outbred Western European population in the northeast of England. ### Methods. Probands were identified within the northeast government office region of England (figure e-1 on the Neurology ® Web site at www.neurology.org) between 1999 and 2009 using modified published criteria through clinical referral to the National Health Service neurology and genetics departments, and a systematic search of clinical databases (see table e-1 for …