Movement Disorders Unit, Department of Neurology, Tel-Aviv University, Tel-Aviv, Israel.
J Neurol Sci. 2011 Nov 15;310(1-2):17-20. doi: 10.1016/j.jns.2011.06.005. Epub 2011 Jun 25.
Parkinson's disease (PD) has a long pre-diagnosis phase that may span as long as 10-20 years. The ability to identify at risk populations raises the possibility of early intervention to delay or prevent the onset of motor symptoms. In Israel, there is a large group of Ashkenazi Jews at risk of developing PD due to high frequency of PD associated mutations in 2 genes (GBA and LRRK2).
To describe our unique experience with a clinical counseling service for 1st degree relatives of PD patients from the Ashkenazi origin who carry the G2019S mutation in the LRRK2 gene.
One hundred, self declared, healthy, first degree relatives of PD patients who carry the G2019S mutation in the LRRK2 gene were tested clinically and genetically in a cross sectional study. Those who have requested information on their risk to develop PD were invited to a free of charge, clinical counseling session to provide information on their risk of developing PD and potential risk modifiers that can be applied. Genetic status was not disclosed and the counselor was unaware of the subjects' G2019S mutation status.
46 subjects (mean age 48.2±10.7; 46% males) came for clinical counseling provided by a Movement Disorders specialist. Siblings and off-springs of the same proband were seen together. Counseling provided general information about the pre-diagnosis phase of PD, the concept of population at risk and habitual and behavioral recommendations that may delay PD motor symptoms onset.
A high percentage of individuals at risk for developing PD requested clinical counseling on modifiers of the risk to develop PD. Counseling provided information as well as recommendations for behavioral modifications and drug treatment. Screening population at risk increases the awareness as well as early diagnosis of PD. Prospective information is needed in order to improve our knowledge base and assess the long term impact of such a counseling service.
帕金森病（PD）有一个很长的预诊断阶段，可能长达 10-20 年。识别高危人群的能力提高了早期干预的可能性，以延迟或预防运动症状的发作。在以色列，由于 2 个基因（GBA 和 LRRK2）中与 PD 相关的突变频率较高，有一大群阿什肯纳兹犹太人有患 PD 的风险。
描述我们在临床咨询服务方面的独特经验，该服务针对来自阿什肯纳兹原籍的 PD 患者的一级亲属，他们携带 LRRK2 基因中的 G2019S 突变。
在一项横断面研究中，对 100 名自我宣称健康的 PD 患者一级亲属进行了临床和基因检测，这些亲属携带 LRRK2 基因中的 G2019S 突变。那些要求了解自己患 PD 风险的人被邀请参加免费的临床咨询会议，提供有关他们患 PD 的风险和可以应用的潜在风险修饰因子的信息。遗传状况未被披露，顾问也不知道受试者的 G2019S 突变状况。
46 名受试者（平均年龄 48.2±10.7；46%为男性）由运动障碍专家提供临床咨询。同一先证者的兄弟姐妹和子女一起就诊。咨询提供了有关 PD 预诊断阶段、高危人群概念以及可能延迟 PD 运动症状发作的习惯和行为建议的一般信息。
有很高比例的高危人群要求进行关于 PD 发病风险修饰因子的临床咨询。咨询提供了信息以及行为改变和药物治疗的建议。对高危人群进行筛查可以提高对 PD 的认识和早期诊断。需要前瞻性信息来提高我们的知识库并评估这种咨询服务的长期影响。
