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A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

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A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Weiming, Fan Yuliang, Wang Youjie, Li Xinsheng, Liu Shuyang, Xie Zhaoxia, Liu
Description	Country affiliation: China Author Affiliation: Weiming F ( The Affiliated Hospital of BinZhou Medical University, 661 HuangHe Second Road, BinZhou, Shandong 256600, China. byfyfwm@163.com)
Abstract	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare autosomal dominant hereditary cerebrovascular disease characterised by migraine attacks, recurrent subcortical transient ischemic attacks or strokes, cognitive decline, and dementia. It is caused by mutations in the Notch3 gene on chromosome 19p13.1, which is the only gene currently known to be closely associated with CADASIL. We describe a novel 100 base pair base fragment deletion mutation (ENST 00000263388, c.512-611del) in the Notch3 gene from a Chinese patient with CADASIL. The present patient has the characteristic clinical and family history for CADASIL, which suggests that C.512del611 may be a cause of CADASIL as well as most of the previously reported Notch3 mutations.
File Format	HTM / HTML
ISSN	09675868
Issue Number	2
Volume Number	20
e-ISSN	15322653
Journal	Journal of Clinical Neuroscience
Language	English
Publisher	Elsevier
Publisher Date	2013-02-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Medicine Cadasil Genetics Cerebral Infarction Leukoencephalopathies Receptors, Notch Sequence Deletion Asian Continental Ancestry Group Base Sequence Diagnosis Female Humans Middle Aged Molecular Sequence Data Pedigree Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Neurology Physiology (medical) Neurology (clinical) Surgery

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

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A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

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A novel Notch3 deletion mutation in a Chinese patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).