title: Focal Macroscopic Cortical Lesions in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
abstract: Cortical microinfarcts and secondary cortical degeneration have been demonstrated in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a severe monogenic cerebral small vessel disease. The aim of this study was to determine whether focal macroscopic cortical lesions can be detected using a specific in vivo magnetic resonance imaging approach.
  
  
  
  Three-dimensional T1 magnetic resonance imaging scans were obtained in 28 nondemented nondisabled CADASIL patients and 29 age- and sex-matched controls. The cortical mantle of patients and controls were extracted using Brainvisa by an experienced user and then evaluated during a dedicated reading session by a second reader after removing the white matter to stay blind to the clinical status. Thereafter, confirmed focal macroscopic cortical lesions were characterized using all available imaging data, including 7-T magnetic resonance imaging in some patients.
  
  
  
  Three focal macroscopic cortical lesions were confirmed in 3 of 28 patients (11%) but none in controls. All lesions were observed in the close vicinity of severe signal changes in the underlying white matter.
  
  
  
  Focal macroscopic cortical lesions can be detected using specific magnetic resonance imaging approaches in CADASIL patients long before the end stage of the disorder. The underlying mechanisms and precise clinical consequences of these cortical changes still need to be determined.
authors.affiliation: From the Department of Neurology, AP-HP, Lariboisière Hospital, Paris, France (A.L.-I., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (A.L.I., F.D.G., H.C., E.J.); UNIACT, NeuroSpin, Gif-sur-Yvette, France (A.L.-I., E.J.); and University Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, France (F.D.G., H.C., E.J.).
authors.forename: Aicha
authors.initials: A
authors.lastname: Lyoubi-Idrissi
authors.affiliation: From the Department of Neurology, AP-HP, Lariboisière Hospital, Paris, France (A.L.-I., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (A.L.I., F.D.G., H.C., E.J.); UNIACT, NeuroSpin, Gif-sur-Yvette, France (A.L.-I., E.J.); and University Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, France (F.D.G., H.C., E.J.).
authors.forename: François
authors.initials: F
authors.lastname: De Guio
authors.affiliation: From the Department of Neurology, AP-HP, Lariboisière Hospital, Paris, France (A.L.-I., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (A.L.I., F.D.G., H.C., E.J.); UNIACT, NeuroSpin, Gif-sur-Yvette, France (A.L.-I., E.J.); and University Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, France (F.D.G., H.C., E.J.).
authors.forename: Hugues
authors.initials: H
authors.lastname: Chabriat
authors.affiliation: From the Department of Neurology, AP-HP, Lariboisière Hospital, Paris, France (A.L.-I., H.C., E.J.); DHU NeuroVasc Sorbonne Paris Cité, France (A.L.I., F.D.G., H.C., E.J.); UNIACT, NeuroSpin, Gif-sur-Yvette, France (A.L.-I., E.J.); and University Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, France (F.D.G., H.C., E.J.). eric.jouvent@aphp.fr.
authors.forename: Eric
authors.initials: E
authors.lastname: Jouvent
mesh_terms: D000328:Adult; D000368:Aged; D046589:CADASIL / Q000000981:diagnostic imaging*; D002540:Cerebral Cortex / Q000000981:diagnostic imaging*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged
keywords: CADASIL; cerebral cortex; cerebral small vessel disease; subcortical ischemic vascular dementia; white matter