What is the role of skin biopsy in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)?

Updated: Oct 09, 2018
  • Author: Reza Behrouz, DO, FACP; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Pathologic evaluation of skin biopsy (see Histologic Findings) in patients with CADASIL has a sensitivity of 45% and specificity of 100%. [25] Preliminary data demonstrate that immunostaining skin biopsy specimens for NOTCH3 protein is highly sensitive (96%) and specific (100%) for the diagnosis of CADASIL. [28]


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