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

C. Goizet, MD^*, G. Lesca, MD^* and A. Dürr, MD PhD on behalf of the French Group for Presymptomatic Testing in Neurogenetic Disorders

From the Service de Génétique Médicale (Dr. Goizet), Hôpital Pellegrin-Enfants, Bordeaux; Service de Génétique (Dr. Lesca), Hôtel-Dieu, Lyon; and INSERM U 289 and Département de Génétique (Dr. Dürr), Cytogénétique et Embryologie, Hôpital de la Salpêtrière, Paris, France.
*These authors contributed equally to this work.

Address correspondence and reprint requests to Dr. Alexandra Dürr, INSERM U289 and Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Salpêtrière, 47 Boulevard de l’Hôpital, 75651 Paris Cedex 13, France; e-mail: durr{at}ccr.jussieu.fr

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.

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