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

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.

journal_name

Ann Clin Transl Neurol

journal_title

Annals of clinical and translational neurology

authors

Tang SC,Chen YR,Chi NF,Chen CH,Cheng YW,Hsieh FI,Hsieh YC,Yeh HL,Sung PS,Hu CJ,Chern CM,Lin HJ,Lien LM,Peng GS,Chiou HY,Jeng JS

doi

10.1002/acn3.690

subject

Has Abstract

pub_date

2018-11-20 00:00:00

pages

121-128

issue

issn

2328-9503

pii

ACN3690

journal_volume

pub_type

杂志文章,多中心研究

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