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CADASIL.

D Hervé1, H Chabriat

  • 1Service de Neurologie, Centre de Référence des maladies Vasculaires rares du Cerveau et de l'Oeil (CERVCO), Hôpital Lariboisière, Paris, France. dominique.herve@lrb.ap-hop-paris.fr

Journal of Geriatric Psychiatry and Neurology
|November 4, 2010
PubMed
Summary
This summary is machine-generated.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small artery disease. NOTCH3 gene mutations cause CADASIL, leading to dementia and disability, with characteristic MRI findings and arteriolar pathology.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery disease.
  • It presents variably with migraine, ischemic events, mood, and cognitive impairments, typically starting around age 45.

Purpose of the Study:

  • To summarize the key genetic, clinical, imaging, and pathological features of CADASIL.

Main Methods:

  • Review of linkage studies identifying NOTCH3 gene mutations.
  • Description of characteristic head MRI findings.
  • Identification of pathological hallmarks via electron microscopy of skin biopsies.

Main Results:

  • NOTCH3 gene mutations on chromosome 19 are causative for CADASIL.
  • Head MRI abnormalities are consistently found in individuals over 35 with NOTCH3 mutations, showing white matter changes and focal hyperintensities.
  • Pathological hallmark includes electron-dense granules in arteriolar media.

Conclusions:

  • CADASIL is a genetically determined small vessel disease linked to NOTCH3 mutations.
  • Early diagnosis can be supported by clinical symptoms, characteristic MRI findings, and skin biopsy results.