title: Diagnosis of CADASIL disease in normotensive and non-diabetics with lacunar infarct.
abstract: BACKGROUND
  CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is characterized by recurrent cerebral ischemic episodes of the lacunar subtype usually without traditional vascular risk factors. We investigated the frequency of CADASIL among selected patients with cerebral ischemia of the lacunar subtype.
  
  
  METHODS
  we studied patients under 65 years old who presented cerebral ischemia of the lacunar subtype without hypertension, diabetes mellitus or other causes that explained the cerebral ischemia. On the skin biopsies, we performed immunostaining analysis on 5μm frozen sections with monoclonal antibody anti-Notch 3 (1E4). We also performed a genetic analysis of the Notch 3 gene (exons 3,4,5,6,11 and 19).
  
  
  RESULTS
  of 1.519 patients analyzed, only 57 (3.7%) fulfilled the selection criteria, and 30 of them accepted to participated in the study. We studied 30 patients, mean age was 53 years (range 34 to 65), 50% were men and all patients suffered a lacunar stroke. Immunostaining analysis was positive in two patients (6.6%) and the genetic analysis confirmed a mutation characteristic of CADASIL in exon 4 nt 622C/T (Arg 182 Cys) and 694 T/C (Cys206Arg) respectively.
  
  
  CONCLUSIONS
  CADASIL disease was present in 6.6% of patients younger than 65 years with a lacunar stroke and without hypertension or diabetes mellitus. Screening for CADASIL should be considered in these patients.
authors.affiliation: Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. lolacocho@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Cocho
authors.forename: J
authors.initials: J
authors.lastname: Martí-Fàbregas
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: E
authors.initials: E
authors.lastname: Rio
authors.forename: A
authors.initials: A
authors.lastname: Arboix
authors.forename: J
authors.initials: J
authors.lastname: Ruscalleda
authors.forename: J L
authors.initials: JL
authors.lastname: Martí-Vilalta
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D001794:Blood Pressure / Q000502:physiology*; D046589:CADASIL / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D062109:Dermatologic Surgical Procedures; D003920:Diabetes Mellitus / Q000503:physiopathology; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D059409:Stroke, Lacunar / Q000209:etiology* / Q000473:pathology*