title: Intracranial arterial disease in CADASIL patients.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by the involvement of cerebral small arteries. Although cerebral large artery disease has been reported in CADASIL patients, the prevalence and location of relevant cerebral arterial disease have not been elucidated. In this study, we aim to characterize infarctions associated with cerebral large artery disease in CADASIL patients.
  
  
  METHODS
  We retrospectively reviewed 49 consecutive symptomatic patients with genetically confirmed CADASIL, who visited the Asan Medical Center between December 2002 and December 2013. Infarctions located within the territory of a relevant, large cerebral artery were identified with the use of magnetic resonance imaging and magnetic resonance angiography. Patients with or without territorial patterns associated with large artery disease were compared.
  
  
  RESULTS
  Out of a total of 49 patients, 23 patients had cerebral infarction. Among these, seven had infarction associated with cerebral large artery disease. The corresponding vascular lesions were located in the intracranial arteries in all seven patients. There were no differences between patients with or without territorial infarction in terms of vascular risk factors, microbleeds, white matter changes, or mutations involving cysteine. A literature review illustrates that symptomatic intracranial diseases are present in CADASIL patients at least in East Asia.
  
  
  CONCLUSIONS
  Infarction in association with intracranial arterial disease may be a manifestation of CADASIL. Further studies are needed to elucidate the pathologic characteristics and to see whether this occurs exclusively in East Asia.
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.
authors.forename: Hyun Goo
authors.initials: HG
authors.lastname: Kang
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea. Electronic address: jongskim@amc.seoul.kr.
authors.forename: Jong S
authors.initials: JS
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D046589:CADASIL / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D020765:Intracranial Arterial Diseases / Q000209:etiology* / Q000235:genetics; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch
keywords: CADASIL; Infarction; Intracranial artery disease