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帕金森病年轻患者对可能的症状前和产前基因检测的态度。

Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing.

作者信息

Jacobs H, Latza U, Vieregge A, Vieregge P

机构信息

Department of Neurology, Medical University of Lübeck, Germany.

出版信息

Genet Couns. 2001;12(1):55-67.

Abstract

OBJECTIVE

To evaluate the opinions and attitudes of young patients with Parkinson's disease (PD) towards possible presymptomatic and prenatal genetic testing for their illness.

BACKGROUND

With progress in understanding of the genetic component in the etiology of PD, presymptomatic genetic testing may become available in subgroups of patients.

METHODS

During a survey on sociodemographic and risk factors 111 PD patients (mean age 45 years: mean age at PD onset 36 years) were given a questionnaire with six items about possible presymptomatic and prenatal genetic testing.

RESULTS

Fifty-seven patients (5196) had knowledge about presymptomatic and prenatal testing. Eighty patients (72%) would take a presymptomatic test, if they had an autosomal dominant form of PD and if the test were available. The most Important reasons given for taking the test were planning of partnership (40%) and family (48%). When being identified as a carrier of a presumed "Parkinson gene", 78 patients (70%) would decide not to have children. Sixty-three patients (57%) would choose to have prenatal testing. Attitudes were largely independent of sociodemographic and disease variables.

CONCLUSIONS

When addressed as hypothetical persons at genetic risk, young patients with PD support possible presymptomatic genetic testing and, to a lesser extent, prenatal testing. Attitudes and reasons to participate in such hypothetical testing do not grossly differ from those of at-risk persons in established single-gene autosomal dominant disorders of late onset.

摘要

目的

评估年轻帕金森病(PD)患者对其疾病可能的症状前和产前基因检测的看法及态度。

背景

随着对PD病因中遗传成分认识的进展,症状前基因检测可能在部分患者亚组中得以应用。

方法

在一项关于社会人口统计学和风险因素的调查中,向111例PD患者(平均年龄45岁,PD发病平均年龄36岁)发放了一份包含六个关于可能的症状前和产前基因检测项目的问卷。

结果

57例患者(5196)了解症状前和产前检测。80例患者(72%)表示,如果他们患有常染色体显性遗传形式的PD且有检测可用,他们会进行症状前检测。进行检测的最重要原因是规划伴侣关系(40%)和家庭(48%)。当被确定为假定“帕金森基因”的携带者时,78例患者(70%)会决定不生育。63例患者(57%)会选择进行产前检测。态度在很大程度上独立于社会人口统计学和疾病变量。

结论

当被视为有遗传风险的假设个体时,年轻PD患者支持可能的症状前基因检测,在较小程度上也支持产前检测。参与此类假设检测的态度和原因与已确定的晚发性单基因常染色体显性疾病中处于风险的个体相比,并无显著差异。

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