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Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C

Jay Chol Choi1, Sook-Keun Song, Jung Seok Lee

  • 1Department of Neurology and Institute of Medical Science, Jeju National University, Jeju, Korea. iguazzu@hanmail.net

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|August 20, 2011
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Korean patients shows diverse stroke presentations. Intracranial atherosclerosis and hemorrhage correlate with poorer outcomes in this genetic small vessel disease.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small vessel disease.
  • NOTCH3 gene mutations cause CADASIL, leading to characteristic clinical and neuroimaging phenotypes.
  • Population-specific variations in CADASIL presentation are recognized.

Purpose of the Study:

  • To investigate clinical stroke presentations and cranial MRI findings in Korean CADASIL patients.
  • To analyze the association of intracranial atherosclerosis (ICAS) and intracerebral hemorrhage with clinical outcomes.

Main Methods:

  • Retrospective review of 73 Korean CADASIL patients (age >18) diagnosed between May 2004 and April 2009.
  • Cranial MRI assessment for lacunar infarction, microbleeds, and ICAS via magnetic resonance angiography.
  • Disability assessment using the modified Rankin scale (mRS).

Main Results:

  • The R544C genotype was prevalent in 90.3% of patients.
  • Cerebral infarction occurred in 31 patients (42.5%), with a mean onset age of 58.8 years.
  • ICAS was present in 16.9% of patients, and intracerebral hemorrhage in 12.3%; both were linked to poor outcomes.

Conclusions:

  • Clinical stroke presentation in CADASIL exhibits ethnic diversity and is influenced by vascular risk factors.
  • ICAS and intracerebral hemorrhage are significant indicators of poor prognosis in CADASIL.
  • Understanding these variations is crucial for managing CADASIL patients effectively.

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