A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene

J Neurol Sci. 2001 Dec 15;193(1):43-7. doi: 10.1016/s0022-510x(01)00579-2.


The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing or skin biopsy. We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. Our findings suggest that negative results in these two tests do not exclude the disease and a leptomeningeal biopsy or a second skin biopsy should be considered in such cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Biopsy
  • Brain / pathology
  • Brain / ultrastructure
  • Cerebral Arteries / pathology
  • Cerebral Arteries / ultrastructure
  • DNA Mutational Analysis
  • Dementia, Multi-Infarct / genetics
  • Dementia, Multi-Infarct / pathology*
  • Diagnosis, Differential
  • Female
  • Humans
  • Muscle, Smooth, Vascular / pathology
  • Muscle, Smooth, Vascular / ultrastructure
  • Mutation / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Receptor, Notch3
  • Receptors, Cell Surface*
  • Receptors, Notch
  • Skin / pathology*


  • NOTCH3 protein, human
  • Proto-Oncogene Proteins
  • Receptor, Notch3
  • Receptors, Cell Surface
  • Receptors, Notch