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November 12, 2002; 59 (9) Articles

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

C. Goizet, G. Lesca, A. Dürr
First published November 12, 2002, DOI: https://doi.org/10.1212/01.WNL.0000032255.75650.C2
C. Goizet
MD
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G. Lesca
MD
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A. Dürr
MD PhD
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Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias
C. Goizet, G. Lesca, A. Dürr
Neurology Nov 2002, 59 (9) 1330-1336; DOI: 10.1212/01.WNL.0000032255.75650.C2

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Abstract

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.

  • Received December 14, 2001.
  • Accepted July 14, 2002.
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