Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL

J Neurol. 1999 Jul;246(7):526-32. doi: 10.1007/s004150050398.


Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a microangiopathic syndrome. Although the defective gene has been identified, genetic analysis may be effort some due to its large size and various mutations. Providing a reliable diagnostic marker would therefore be helpful. Electron microscopy has revealed characteristic electron-dense granular deposits in the basal lamina of vessels of patients with CADASIL. We investigated the sensitivity of skin and muscle biopsies for diagnosing CADASIL. We examined 30 family members of three unrelated German families affected by CADASIL. In 14 of the 21 affected individuals we performed skin and muscle biopsies; two patients were clinically asymptomatic. Under electron microscopy all muscle and skin biopsy specimens showed patches of granular and electron-dense material in the basal layer of both arterioles and capillaries. These findings confirm that general microangiopathy is a typical feature of this syndrome and is present in the early phase of the disease with or without clinical manifestation. Thus, as electron microscopy of skin biopsy specimens can establish the diagnosis of CADASIL with high certainty, it may be considered the method of first choice.

MeSH terms

  • Adult
  • Biopsy
  • Dementia, Multi-Infarct / diagnosis*
  • Dementia, Multi-Infarct / genetics
  • Dementia, Multi-Infarct / pathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Leukoencephalopathy, Progressive Multifocal / diagnosis*
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Pedigree
  • Sensitivity and Specificity
  • Skin / pathology*
  • Syndrome