title: Quantitative MRI in CADASIL: correlation with disability and cognitive performance.
abstract: OBJECTIVE
  To study correlations between total lesion load on brain MRI and clinical features, and to evaluate the influence of demographic variables on quantitative MRI variables in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  
  
  BACKGROUND
  CADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene. MRI abnormalities have been found both in asymptomatic and symptomatic CADASIL individuals.
  
  
  METHODS
  Quantitative measurements on cerebral MRI were performed in 64 CADASIL individuals. MRI lesions were quantified using a semi-automated segmentation technique based on local thresholds.
  
  
  RESULTS
  MRI total lesion volume correlated significantly with disability (Rankin Scale) on both T1- and proton density (PD)-weighted images. There was a significant inverse correlation between total lesion volume and overall cognitive performance as determined by the Mini-Mental State Examination. Age but not sex was correlated with lesion load both on T1- and PD-weighted images. There was no detectable influence of the Notch3 genotype on quantitative MRI variables.
  
  
  CONCLUSIONS
  This study demonstrates correlations between MRI lesion volume and clinical characteristics in CADASIL. Longitudinal studies are now warranted to investigate whether quantitative MRI could be used as an adjunct outcome measure in future therapeutic trials in CADASIL.
authors.affiliation: Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany. mdichgans@brain.nefo.med.uni-muenchen.de
authors.forename: M
authors.initials: M
authors.lastname: Dichgans
authors.forename: M
authors.initials: M
authors.lastname: Filippi
authors.forename: R
authors.initials: R
authors.lastname: Brüning
authors.forename: G
authors.initials: G
authors.lastname: Iannucci
authors.forename: C
authors.initials: C
authors.lastname: Berchtenbreiter
authors.forename: L
authors.initials: L
authors.lastname: Minicucci
authors.forename: I
authors.initials: I
authors.lastname: Uttner
authors.forename: A
authors.initials: A
authors.lastname: Crispin
authors.forename: H
authors.initials: H
authors.lastname: Ludwig
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: T A
authors.initials: TA
authors.lastname: Yousry
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002539:Cerebral Arterial Diseases / Q000473:pathology* / Q000523:psychology; D002544:Cerebral Infarction / Q000473:pathology* / Q000523:psychology; D003071:Cognition / Q000502:physiology; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000473:pathology* / Q000523:psychology; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged