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http://purl.uniprot.org/citations/27455010http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27455010http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Methods

Clinical manifestations, neuroimaging, and genetic analysis were performed.

Results

The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed. Cranial MRI has revealed multi-infarct lesions and white matter hyperintensity involving bilateral basal ganglia, subcortex and brain stem. All such features were in keeping with the diagnosis of CADASIL. A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases.

Conclusion

Both clinical and molecular features suggested that the family has been affected with CADASIL."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.org/dc/terms/identifier"doi:10.3760/cma.j.issn.1003-9406.2016.04.019"xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Cheng H."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Jin Q."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Niu Q."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Ding X."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Hou X."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Yao J."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/author"Shen F."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/pages"511-514"xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/title"[Study of a CADASIL family with migraine as the presenting symptom]."xsd:string
http://purl.uniprot.org/citations/27455010http://purl.uniprot.org/core/volume"33"xsd:string
http://purl.uniprot.org/citations/27455010http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27455010
http://purl.uniprot.org/citations/27455010http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/27455010
http://purl.uniprot.org/uniprot/#_B8XFT4-mappedCitation-27455010http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27455010
http://purl.uniprot.org/uniprot/#_Q14962-mappedCitation-27455010http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27455010
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http://purl.uniprot.org/uniprot/Q9UM47http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27455010
http://purl.uniprot.org/uniprot/Q59FL3http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27455010
http://purl.uniprot.org/uniprot/Q14962http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27455010
http://purl.uniprot.org/uniprot/B8XFT4http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27455010
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