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Presymptomatic genetic testing in CADASIL.

S Reyes1, A Kurtz, D Hervé

  • 1Department of Neurology and CERVCO, GH Saint-Louis-Lariboisière-Fernand Widal, APHP et Université Paris, 7 Denis Diderot, Paris, France.

Journal of Neurology
|March 16, 2012
PubMed
Summary
This summary is machine-generated.

Presymptomatic genetic testing for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is rarely sought and has a high dropout rate. A multidisciplinary approach minimizes negative impacts for those completing the genetic counseling process.

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Genetic counseling for cerebrovascular diseases remains under-researched.
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic cerebrovascular disorder.
  • Understanding the characteristics and outcomes of presymptomatic testing (PT) for CADASIL is crucial.

Purpose of the Study:

  • To investigate the characteristics, motivations, and long-term outcomes of presymptomatic genetic testing (PT) in individuals at risk for CADASIL.
  • To evaluate the effectiveness of a multidisciplinary genetic counseling approach for CADASIL.
  • To assess the psychological and quality of life impacts of PT in CADASIL carriers.

Main Methods:

  • A 7-year prospective study at a national center for rare vascular diseases.
  • Recruitment of subjects seeking PT for CADASIL, collecting sociodemographic, motivational, and psychological data.
  • A 6-month multidisciplinary consultation process involving geneticists, neurologists, and psychologists.
  • Assessment of cognitive performance, mood, autonomy, and quality of life for mutation carriers.

Main Results:

  • Only 33 subjects applied for PT for CADASIL over 7 years, with a 63% dropout rate after the initial step.
  • Subjects seeking PT were predominantly women, partnered, had children, and were of high sociocultural background.
  • Six carriers of the NOTCH3 mutation were identified, remained asymptomatic with a high quality of life after a mean follow-up of 19 months.
  • No significant negative events were reported by carriers, and two had children post-testing.

Conclusions:

  • Presymptomatic genetic testing for CADASIL is infrequently requested and experiences a high dropout rate.
  • A structured, multidisciplinary, and multistep genetic counseling process appears effective in mitigating adverse psychological consequences.
  • The study provides initial insights into the utility and impact of genetic counseling for CADASIL, suggesting potential benefits for well-selected individuals.