Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan

Sung Chun Tang, Yih Ru Chen, Nai Fang Chi, Chih Hao Chen, Yu Wen Cheng, Fang I. Hsieh, Yi Chen Hsieh, Hsu Ling Yeh, Pi Shan Sung, Chaur Jong Hu, Chang Ming Chern, Huey Juan Lin, Li Ming Lien, Giia Sheun Peng, Hung Yi Chiou, Jiann Shing Jeng

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Objective: Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) caused by NOTCH3 mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. We investigated the prevalence of NOTCH3 p.R544C mutation in stroke patients in Taiwan. Methods: This prospective, multicenter study recruited acute stroke patients within 10 days of symptom onset. The p.R544C mutation was identified by polymerase chain reaction with confronting two-pair primers and sequencing. Clinical parameters, vascular risk factors, stroke subtypes, and stroke outcomes were analyzed. Results: Of the 1970 stroke patients (mean age 61.1 ± 13.6 years, male 69.5%) included, 1705 (86.5%) had ischemic stroke and 265 (13.5%) had intracerebral hemorrhage. The prevalence of p.R544C in the study population was 2.8% (95% confidence interval [CI] = 2.1–3.5%). The prevalence was highest in patients with small vessel occlusion type of ischemic stroke (5.6%), followed by intracerebral hemorrhage (5.3%), and infarct of undetermined etiology (2.7%), and was low in patients with cardioembolism (0.8%) and large artery atherosclerosis (0.7%). All p.R544C patients with intracerebral hemorrhage were nonlobar hemorrhage. Sibling history of stroke (odds ratio [OR] = 4.50, 95% CI = 1.67–12.14 in ischemic stroke; OR = 6.03, 95% CI = 1.03–35.47 in intracerebral hemorrhage, respectively) and small vessel occlusion (OR, 4.03, 95% CI, 1.26–12.92) were significantly associated with p.R544C. Interpretation: p.R544C NOTCH3 mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke.

Original languageEnglish
Pages (from-to)121-128
Number of pages8
JournalAnnals of Clinical and Translational Neurology
Volume6
Issue number1
DOIs
Publication statusPublished - 2019 Jan

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Clinical Neurology

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