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Cadasil: presenting as a mood disorder.

N Thomas1, T Mathews, A Loganathan

  • 1University of Dundee.

Scottish Medical Journal
|June 13, 2002
PubMed
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CADASIL is a genetic vasculopathy causing strokes and dementia. Diagnosis involves skin biopsies and genetic testing for Notch 3 gene mutations.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease.
  • It presents as early-onset vascular dementia and recurrent subcortical strokes, often misdiagnosed.
  • Migraine and mood disturbances are also common clinical manifestations.

Observation:

  • Magnetic resonance imaging (MRI) reveals characteristic white matter changes and lacunar infarcts.
  • Skin biopsy can show granular osmophilic material in small arteries, a key diagnostic feature.
  • The condition affects individuals in middle age, impacting cognitive and neurological functions.

Findings:

  • CADASIL is definitively linked to mutations in the NOTCH3 gene.

Related Experiment Videos

  • This autosomal dominant disorder affects small blood vessels in the brain.
  • Pathological changes include demyelination and ischemic lesions.

    • Implications:

    • Early and accurate diagnosis of CADASIL is crucial for patient management.
    • Genetic testing for NOTCH3 mutations confirms the diagnosis.
    • Understanding the genetic basis aids in developing targeted therapies and counseling families.