title: [Study of a CADASIL family with migraine as the presenting symptom].
abstract: 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.
  
  
  CONCLUSIONS
  Both clinical and molecular features suggested that the family has been affected with CADASIL.
authors.affiliation: Department of Neurology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China. Email: 13815877695@126.com.
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Hou
authors.forename: Hong
authors.initials: H
authors.lastname: Cheng
authors.forename: Qingwen
authors.initials: Q
authors.lastname: Jin
authors.forename: Qi
authors.initials: Q
authors.lastname: Niu
authors.forename: Feifei
authors.initials: F
authors.lastname: Shen
authors.forename: Juan
authors.initials: J
authors.lastname: Yao
authors.forename: Xinsheng
authors.initials: X
authors.lastname: Ding
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch