Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias

Neurology. 2002 Nov 12;59(9):1330-6. doi: 10.1212/01.wnl.0000032255.75650.c2.


Objective: To report a 7-year experience of presymptomatic testing in persons at risk for Huntington disease (HD) and to compare their characteristics and outcomes with those of persons at risk for a less disabling condition, autosomal dominant cerebellar ataxias (ADCA).

Methods: The authors collected data on presymptomatic testing for HD (n = 712) and ADCA (n = 46) in 10 French centers.

Results: The characteristics of applicants were similar in HD and ADCA, revealing a predominance of women, a low rate of completing the presymptomatic testing program, and a high rate of follow-up. The frequency of serious events was low (2% for HD, 5% for ADCA), but such events were also found after favorable results. Family planning was a more frequent reason for seeking presymptomatic testing in ADCA than in HD. Prenatal diagnosis was performed in only half of the pregnancies in HD carriers (n = 35) but in all of those in ADCA carriers (n = 4).

Conclusion: Counseling in multistep and multidisciplinary teams is important not only for presymptomatic testing in HD but also for less disabling diseases.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Aged
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / epidemiology
  • Cerebellar Ataxia / genetics*
  • Female
  • France
  • Genes, Dominant
  • Genetic Testing / psychology
  • Genetic Testing / statistics & numerical data*
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics*
  • Male
  • Middle Aged
  • Patient Acceptance of Health Care / psychology
  • Patient Acceptance of Health Care / statistics & numerical data
  • Risk Factors
  • Sex Distribution
  • Social Class