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学科主题: 临床医学
题名:
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL
作者: Wang, Zhaoxia1; Yuan, Yun1; Zhang, Wei1; Lv, He1; Hong, Daojun1; Chen, Bin1; Liu, Yang1; Luan, Xinghua1; Xie, Sheng2; Wu, Shiwen3
刊名: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
发表日期: 2011-05-01
DOI: 10.1136/jnnp.2010.209247
卷: 82, 期:5, 页:534-539
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Psychiatry ; Surgery
研究领域[WOS]: Neurosciences & Neurology ; Psychiatry ; Surgery
关键词[WOS]: AUTOSOMAL-DOMINANT ARTERIOPATHY ; SUBCORTICAL INFARCTS ; LEUKOENCEPHALOPATHY CADASIL ; DIAGNOSTIC STRATEGIES ; SPECTRUM ; ABNORMALITIES ; MUSCLE
英文摘要:

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited small-vessel disease caused by mutations in NOTCH3. Although CADASIL cases have been identified worldwide, the data from mainland China are still limited.

Objective To identify NOTCH3 mutations and analyse the clinical and MRI findings in a large series of CADASIL patients from mainland China.

Methods Direct sequencing of NOTCH3 and/or skin or sural nerve biopsies were performed on 48 unrelated suspected CADASIL cases of Chinese descent. The clinical manifestations and MRI features were retrospectively collected and analysed in the 33 index patients with confirmed diagnosis and their available affected family members.

Results 20 different NOTCH3 mutations were identified in 33 families, including seven novel mutations. The highest mutation frequency was in exons 4 (55%) and 3 (30%). Granular osmiophilic material in smooth muscle cells was found in 30 cases who were biopsied. Clinical presentation included TIA/stroke in 82%, cognitive decline in 60%, and migraine with aura in only 5% of 57 symptomatic cases. MRI detected multiple lacunar infarcts and leucoaraiosis in all symptomatic cases, brainstem lesions in 64% of symptomatic cases and white-matter lesions in the temporal pole in 46% of affected members.

Conclusions The mutational spectrum and primary clinical features of patients with CADASIL from mainland China are similar to those in Caucasians. However, migraine with aura and abnormal white matter in the temporal pole are less common than among Caucasians, while brainstem involvement is more common than among Caucasians.

语种: 英语
所属项目编号: 30470595 ; 30971006
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000289234500012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61986
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Radiol, Beijing 100034, Peoples R China
3.Gen Hosp Chinese Armed Police Force, Dept Neurol, Beijing, Peoples R China

Recommended Citation:
Wang, Zhaoxia,Yuan, Yun,Zhang, Wei,et al. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,2011,82(5):534-539.
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