title: [Cerebral arteriopathy with subcortical infarctions and leukoencephalopathy with dominant autosomal inheritance (CADASIL). Clinical and morphological study].
abstract: OBJECTIVE
  The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by the recurrence of subcortical infarcts leading to dementia. It is known the genetic and neuroimaging findings, but there are few studies about its histopathology. Our objective had been to study the pathological findings in this arteriopathy.
  
  
  METHODS
  We studied two families spreading over four generations. We performed a detailed clinical history, laboratory investigations, neuroimaging study and genetic analysis. Two brain biopsies and one autopsy were done in patients from the two families.
  
  
  RESULTS
  Eight affected members, with autosomal dominant inheritance. Age at onset was between 40 and 50 years. This was characterized clinically by recurrent ischemic attacks, headache and subcortical dementia without vascular risk factors. Histopathological findings showed an arteriopathy characterized by a slightly basophilic small arterial granular degeneration of the medial sheath associated with the presence of ballooned smooth muscle cells with clear cytoplasm.
  
  
  CONCLUSIONS
  The histopathological findings of CADASIL show a characteristic arteriopathy that allow a better understanding of its pathogenesis and could contribute for its diagnosis.
authors.affiliation: Servicio de Neurología, Hospital Universitario La Paz, Universidad Autónoma, Madrid.
authors.forename: C
authors.initials: C
authors.lastname: Marrero Falcón
authors.forename: E
authors.initials: E
authors.lastname: Díez Tejedor
authors.forename: J
authors.initials: J
authors.lastname: Arpa Gutiérrez
authors.forename: P
authors.initials: P
authors.lastname: Barreiro Tella
mesh_terms: D000328:Adult; D002539:Cerebral Arterial Diseases / Q000150:complications*; D002544:Cerebral Infarction / Q000175:diagnosis / Q000209:etiology*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009130:Muscle, Smooth / Q000473:pathology; D010375:Pedigree; D012008:Recurrence
vernacular_title: Arteriopatía cerebral con infartos subcorticales y leucoencefalopatía con herencia autosómica dominante (CADASIL). Estudio clínico y morfológico.