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Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke

Jay Chol Choi1, Keun-Hwa Lee, Sook-Keun Song

  • 1Department of Neurology, Jeju National University, Jeju, Korea. strokedoc.choi@gmail.com

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|December 3, 2011
PubMed

Insights

NOTCH3 gene mutations are common in Korean patients with acute ischemic stroke, particularly those showing signs of small blood vessel disease on brain imaging. This finding aids in diagnosing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder affecting cerebral small blood vessels, caused by NOTCH3 gene mutations.
  • CADASIL diagnosis can be challenging in Asian populations due to less frequent typical clinical and neuroimaging presentations.
  • This study investigated NOTCH3 gene mutations in Korean patients experiencing acute ischemic stroke.

Purpose of the Study:

  • To screen for NOTCH3 gene mutations in consecutive patients with acute ischemic stroke in Korea.
  • To determine the frequency and specific types of NOTCH3 mutations in this patient cohort.
  • To assess the association between NOTCH3 mutations and neuroimaging findings indicative of small vessel disease.

Main Methods:

  • 151 consecutive acute ischemic stroke patients were enrolled between April 2008 and March 2009.
  • Clinical examinations, family history interviews, and structured symptom assessments were conducted.
  • Brain MRI data were analyzed for white-matter hyperintensity, cerebral microbleeds, and lacunar infarctions. Polymerase chain reaction screened specific NOTCH3 gene exons (3, 4, 6, 11, 18).

Main Results:

  • NOTCH3 gene mutations were identified in 6 out of 151 patients (4.0%), all carrying the R544C mutation in exon 11.
  • Four mutation carriers had large artery atherosclerosis.
  • The prevalence of CADASIL among patients with advanced small-vessel disease on neuroimaging was 36.0%.

Conclusions:

  • NOTCH3 gene mutations are frequently detected in acute stroke patients in this region of Korea.
  • Patients presenting with neuroimaging features of advanced small-vessel disease show a higher prevalence of NOTCH3 mutations.
  • These findings highlight the importance of genetic screening for NOTCH3 mutations in specific stroke patient populations.
Abstract

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