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

被引：65
|
作者：
Goizet, C
Lesca, G
Dürr, A
机构：
[1] Hop La Pitie Salpetriere, INSERM, U289, F-75651 Paris 13, France
[2] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, F-75651 Paris, France
[3] Hop Pellegrin Enfants, Serv Genet Med, Bordeaux, France
[4] Hop Hotel Dieu, Serv Genet, Lyon, France
来源：
NEUROLOGY | 2002年 / 59卷 / 09期
关键词：
D O I：
10.1212/01.WNL.0000032255.75650.C2
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：1330 / 1336
页数：7
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