22q11.2缺失综合征相关的帕金森病
22q11.2 Deletion Syndrome-Associated Parkinson's Disease.
作者信息
Boot Erik, Bassett Anne S, Marras Connie
机构信息
The Dalglish Family 22q Clinic for Adults, and Department of Psychiatry University Health Network Toronto Ontario Canada.
's Heeren Loo Zorggroep Amersfoort The Netherlands.
出版信息
Mov Disord Clin Pract. 2018 Nov 9;6(1):11-16. doi: 10.1002/mdc3.12687. eCollection 2019 Jan.
BACKGROUND
22q11.2 deletion syndrome (22q11.2DS) is a multisystem condition associated with an increased risk of early-onset Parkinson's disease (PD).
METHODS
We review the clinical, neuroimaging, and neuropathological observations, as well as diagnostic challenges, of PD in 22q11.2DS. We conducted a search of PubMed up until June 1, 2018 and personal files to identify relevant publications.
RESULTS
22q11.2DS-associated PD is responsible for approximately 0.5% of early-onset PD. The hallmark motor symptoms and neuropathology of PD, and typical findings of reduced striatal dopamine transporter binding with molecular imaging, are present in 22q11.2DS-associated PD. Mean age at PD onset in 22q11.2DS is relatively young (∼40 years). Patients with 22q11.2DS-associated PD show a good response to levodopa.
CONCLUSIONS
Further recognition of 22q11.2DS and study of PD in people with 22q11.2DS could provide insights into the mechanisms that cause PD in the general population. 22q11.2DS may serve as an identifiable PD model to study prodromal PD and disease-modifying treatments.
背景
22q11.2缺失综合征（22q11.2DS）是一种多系统疾病，与早发性帕金森病（PD）风险增加相关。
方法
我们回顾了22q11.2DS患者中PD的临床、神经影像学和神经病理学观察结果以及诊断挑战。我们检索了截至2018年6月1日的PubMed和个人文件以识别相关出版物。
结果
22q11.2DS相关的PD约占早发性PD的0.5%。22q11.2DS相关的PD存在PD的标志性运动症状和神经病理学，以及分子影像学显示的纹状体多巴胺转运体结合减少的典型表现。22q11.2DS患者PD发病的平均年龄相对年轻（约40岁）。22q11.2DS相关的PD患者对左旋多巴反应良好。
结论
进一步认识22q11.2DS并对22q11.2DS患者的PD进行研究，可能为了解普通人群中PD的发病机制提供见解。22q11.2DS可作为研究前驱期PD和疾病修饰治疗的可识别PD模型。
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