Goizet C, Lesca G, Dürr A
Service de Génétique Médicale, Hôpital Pellegrin-Enfants, Bordeaux, France.
Neurology. 2002 Nov 12;59(9):1330-6. doi: 10.1212/01.wnl.0000032255.75650.c2.
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).
The authors collected data on presymptomatic testing for HD (n = 712) and ADCA (n = 46) in 10 French centers.
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).
Counseling in multistep and multidisciplinary teams is important not only for presymptomatic testing in HD but also for less disabling diseases.
报告对亨廷顿病（HD）高危人群进行症状前检测的7年经验，并将他们的特征和检测结果与致残性较低的常染色体显性遗传性小脑共济失调（ADCA）高危人群的特征和检测结果进行比较。
作者收集了法国10个中心关于HD（n = 712）和ADCA（n = 46）症状前检测的数据。
HD和ADCA检测申请者的特征相似，女性占多数，完成症状前检测项目的比例较低，随访率较高。严重事件的发生率较低（HD为2%，ADCA为5%），但在检测结果呈阳性后也发现了此类事件。与HD相比，计划生育是ADCA患者寻求症状前检测更为常见的原因。HD携带者的妊娠中只有一半进行了产前诊断（n = 35），而ADCA携带者的所有妊娠（n = 4）均进行了产前诊断。
多步骤、多学科团队的咨询不仅对HD的症状前检测很重要，对致残性较低的疾病也很重要。
