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A novel hereditary small vessel disease of the brain

Steve Verreault1, Anne Joutel, Florence Riant

  • 1Service de Neurologie, Laboratoire de génétique, Hôpital Lariboisière, Assistance Publique des Hôpitaux de Paris, France.

Annals of Neurology
|January 13, 2006
PubMed

Insights

Researchers identified a new hereditary small vessel disease of the brain in a Portuguese family, distinct from CADASIL. Genetic testing excluded the NOTCH3 gene, suggesting a novel cause for this brain condition.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Hereditary ischemic small vessel diseases of the brain (SVDB) are rare.
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form.
  • This study investigates a family with SVDB distinct from CADASIL.

Purpose of the Study:

  • To characterize a novel hereditary small vessel disease of the brain.
  • To differentiate it from known conditions like CADASIL.
  • To identify the genetic basis of the disease in the affected family.

Main Methods:

  • Clinical and neuroimaging investigations in 13 relatives.
  • Skin biopsy with Notch3 immunostaining.
  • NOTCH3 gene sequencing and haplotype analysis.

Main Results:

  • Six individuals showed diffuse white matter hyperintensities on MRI.
  • White matter lesions were extensive in a mother without vascular risk factors.
  • Skin biopsy and NOTCH3 gene analysis were negative; haplotype analysis excluded the NOTCH3 locus.

Conclusions:

  • The family presents a novel hereditary small vessel disease of the brain.
  • The causative gene is distinct from NOTCH3.
  • Further research is needed to identify the novel mutated gene.
Abstract

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