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学科主题临床医学
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL
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
2011-05-01
DOI10.1136/jnnp.2010.209247
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
WOS记录号WOS:000289234500012
引用统计
被引频次:32[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61986
专题北京大学第一临床医学院_神经内科
北京大学第二临床医学院_血液科
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
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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.
APA Wang, Zhaoxia.,Yuan, Yun.,Zhang, Wei.,Lv, He.,Hong, Daojun.,...&Wu, Shiwen.(2011).NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,82(5),534-539.
MLA Wang, Zhaoxia,et al."NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL".JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY 82.5(2011):534-539.
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