title: Clinical and radiological features in CADASIL and NOTCH3-negative patients: a multicenter study from Turkey.
abstract: BACKGROUND
  The diversity of clinical presentation and neuroimaging findings of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) from different regions of the world has not yet been studied in depth. Here we investigated the variability of clinical, radiological and genetic data of 48 patients analyzed for NOTCH3 mutation in Turkey.
  
  
  METHODS
  Clinical evaluation was made according to a preformed questionnaire. Cranial neuroimaging findings were determined on the basis of T1, T2, FLAIR and proton-density magnetic resonance scans. For genetic analysis, polymerase chain reaction was performed with primers flanking exons 2-6 and 11 of NOTCH3 gene.
  
  
  RESULTS
  Twenty-five patients (52.1%) were diagnosed as CADASIL with NOTCH3 mutation, while 23 patients (47.9%) had no mutation (NOTCH3-negative patients). The mean age and age at stroke onset were lower in male CADASIL patients (p < 0.03). A family history of migraine (p = 0.012), stroke (p < 0.001), recurrent strokes (p = 0.020) and dementia (p = 0.012) was more common in CADASIL patients. Temporal pole involvement was more common in CADASIL patients (p = 0.004).
  
  
  CONCLUSIONS
  It is of clinical importance to identify the heterogeneity of CADASIL from different countries due to a low correlation of clinical and radiological data with respect to NOTCH3 mutation.
authors.affiliation: Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Birsen
authors.initials: B
authors.lastname: Ince
authors.forename: Gulcin
authors.initials: G
authors.lastname: Benbir
authors.forename: Aksel
authors.initials: A
authors.lastname: Siva
authors.forename: Sabahattin
authors.initials: S
authors.lastname: Saip
authors.forename: Ufuk
authors.initials: U
authors.lastname: Utku
authors.forename: Yahya
authors.initials: Y
authors.lastname: Celik
authors.forename: Dilek
authors.initials: D
authors.lastname: Necioglu-Orken
authors.forename: Serefnur
authors.initials: S
authors.lastname: Ozturk
authors.forename: Nazire
authors.initials: N
authors.lastname: Afsar
authors.forename: Sevinc
authors.initials: S
authors.lastname: Aktan
authors.forename: Talip
authors.initials: T
authors.lastname: Asil
authors.forename: Goksel
authors.initials: G
authors.lastname: Bakac
authors.forename: Hakan
authors.initials: H
authors.lastname: Ekmekci
authors.forename: Mustafa
authors.initials: M
authors.lastname: Gokce
authors.forename: Yakup
authors.initials: Y
authors.lastname: Krespi
authors.forename: Ipek
authors.initials: I
authors.lastname: Midi
authors.forename: Figen
authors.initials: F
authors.lastname: Varlibas
authors.forename: Beyza
authors.initials: B
authors.lastname: Citci-Yalcinkaya
authors.forename: Baki
authors.initials: B
authors.lastname: Goksan
authors.forename: Derya
authors.initials: D
authors.lastname: Uluduz
authors.forename: Oya
authors.initials: O
authors.lastname: Uyguner
mesh_terms: D000328:Adult; D046589:CADASIL / Q000235:genetics* / Q000473:pathology*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D014421:Turkey / Q000453:epidemiology
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch