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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

A A Sullivan1, B T Teh, S Jeavons

  • 1Department of Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|April 1, 1997
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic condition causing strokes and dementia. Linkage analysis confirmed the gene location in a specific Australian family, ruling out repeat expansion mutations.

Area of Science:

  • Neurogenetics
  • Vascular Neurology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare genetic disorder.
  • It is characterized by recurrent subcortical infarcts, progressive cognitive decline, and dementia.
  • The genetic basis has been localized to chromosome 19p13.

Purpose of the Study:

  • To investigate the genetic basis of CADASIL in an Australian family.
  • To confirm the gene localization using linkage analysis.
  • To exclude repeat expansion mutations as a cause in this kindred.

Main Methods:

  • Clinical assessment of an Australian family with suspected CADASIL.
  • Linkage analysis to determine the chromosomal location of the disease gene.
  • Repeat expansion detection (RED) testing to identify specific mutation types.

Main Results:

  • The Australian kindred presented with typical clinical features of CADASIL.
  • Linkage analysis supported the assignment of the CADASIL gene to chromosome 19p13.
  • No evidence of repeat expansion mutations was found using RED testing in this family.

Conclusions:

  • The findings support the genetic basis of CADASIL in the studied Australian family.
  • Linkage analysis is a valuable tool for diagnosing CADASIL and localizing its genetic locus.
  • The absence of repeat expansion mutations suggests alternative genetic mechanisms may be involved in this specific cohort.

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