Intracranial arterial disease in CADASIL patients

J Neurol Sci. 2015 Dec 15;359(1-2):347-50. doi: 10.1016/j.jns.2015.11.029. Epub 2015 Nov 17.

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.

Conclusion: 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.

Keywords: CADASIL; Infarction; Intracranial artery disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • CADASIL / complications*
  • CADASIL / genetics
  • Female
  • Humans
  • Intracranial Arterial Diseases / etiology*
  • Intracranial Arterial Diseases / genetics
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics
  • Receptor, Notch3
  • Receptors, Notch / genetics
  • Retrospective Studies

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch