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Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese

Yi-Chung Lee1, Chin-San Liu, Ming-Hong Chang

  • 1Dept. of Neurology, National Yang-Ming University, School of Medicine, #155, Sec.2, Li-nung St., Peitou District, Taipei, Taiwan 112, Republic of China.

Journal of Neurology
|February 27, 2009
PubMed

Insights

This study identifies a unique spectrum of NOTCH3 mutations in Chinese CADASIL patients in Taiwan, revealing R544C as a common mutation possibly linked to a shared ancestry. Intracerebral hemorrhage is a frequent finding in East Asian individuals with CADASIL.

Area of Science:

  • Neurology
  • Genetics
  • Medical Imaging

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder.
  • Most existing data on CADASIL originates from Caucasian populations.
  • Limited information exists regarding NOTCH3 mutations and MRI findings in East Asian populations, specifically in Taiwan.

Purpose of the Study:

  • To investigate the spectrum of NOTCH3 gene mutations in Chinese patients with suspected CADASIL in Taiwan.
  • To characterize the magnetic resonance imaging (MRI) features associated with CADASIL in this population.
  • To compare findings with existing data from other ethnic groups.

Main Methods:

  • Direct nucleotide sequencing of NOTCH3 exons 2-23 was performed on 21 unrelated patients with suspected CADASIL.
  • MRI scans were retrospectively analyzed and scored using a modified Schelten's scale.
  • Haplotype analysis was conducted for patients with the common R544C mutation.

Main Results:

  • Nine distinct NOTCH3 point mutations were identified in 21 patients.
  • Exon 11 harbored a high frequency of mutations (47.6%), with R544C being particularly common.
  • Anterior temporal lobe abnormalities on T2-weighted MRI showed low sensitivity (42.9%), while intracerebral hemorrhage (ICH) was present in 23.8% of patients.

Conclusions:

  • A population-specific spectrum of NOTCH3 mutations in CADASIL was identified in Chinese patients in Taiwan.
  • The high prevalence of NOTCH3 R544C suggests a potential common ancestor among affected individuals.
  • Anterior temporal MRI findings are not highly sensitive for CADASIL, and ICH is a notable manifestation, especially in hypertensive East Asian patients.
Abstract

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