GENETICS OF PARKINSON DISEASE
GENETICS OF PARKINSON DISEASE
复制标题
DOI：
10.1212/01.con.0000275627.47561.c3
复制
发表时间：
2008-04
期刊：
影响因子：
--
通讯作者：
K. Lohmann;C. Klein
中科院分区：
文献类型：
--
作者：
K. Lohmann;C. Klein
在过去的十年中，六种单基因帕金森病 (PD) 明显与这种运动障碍有关。与帕金森病遗传性相关的单基因的鉴定彻底改变了以前对非遗传性病因的看法。最常见且临床上最相关的形式是 LRRK2 和 PARKIN 相关的 PD。目前研究的一个主要焦点是调查与遗传性帕金森病相关的基因和蛋白质的确切功能，以更好地了解更常见的特发性帕金森病的潜在病理生理机制。神经科医生越来越多地面临帕金森病基因检测的选择。不幸的是，这些测试价格昂贵，不能预测个体患者的病程，并且很少影响计划生育。目前，阳性检测结果不会改变治疗选择，也没有任何神经保护干预措施可用。然而，基因测试在基础和临床研究环境中非常有用，可以识别高危个体，可以阐明这些个体的临床前变化和潜在的补偿机制，并且这些个体可能是神经保护试验的候选者。
In the last decade, six monogenic forms of Parkinson disease (PD) have clearly been associated with this movement disorder. The identification of single genes linked to heritable forms of PD has revolutionized the previously held view of a largely nongenetic etiology. The most frequent and, thus, clinically most relevant forms are LRRK2- and PARKIN-associated PD. A main focus of present research is the investigation of the exact function of the genes and proteins involved in genetic PD to better understand the underlying pathophysiologic mechanisms of the much more common idiopathic form of the disorder. Neurologists are increasingly faced with the option of gene testing for PD. Unfortunately, these tests are expensive, do not predict the disease course in the individual patient, and rarely influence family planning. Currently, a positive test result does not change the choice of therapy, nor is any neuroprotective intervention available. However, genetic tests are useful in the basic and clinical research setting to identify at-risk individuals in whom preclinical changes and potential compensatory mechanisms can be elucidated and who may be candidates for neuroprotective trials.