Brockmann K, Lohmann K
Zentrum für Neurologie, Abteilung Neurodegeneration, Hertie-Institut für klinische Hirnforschung, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Universität Tübingen, Hoppe Seyler Straße 3, 72076, Tübingen, Deutschland.
Institut für Neurogenetik, Universität zu Lübeck, Lübeck, Deutschland.
Nervenarzt. 2017 Jul;88(7):713-719. doi: 10.1007/s00115-017-0348-5.
Movement disorders are often genetically complex with genetic risk factors playing a major role. For example, monogenic causes of Parkinson's disease (PD) can be found in only 2-5% of patients who often have an early onset (<40 years). In the majority of patients, common genetic variants seem to contribute to the disease risk. To date, 24 genetic risk factors have been identified. For restless legs syndrome (RLS), six different risk variants have been reported but no monogenic cause is known yet. For the genetic risk factors of essential tremor and dystonia, which are less well studied, only five and two candidate variants, respectively, have been described but their roles still require independent confirmation. In this review, we provide an overview on the involved genes, their function, and discuss possible, disease mechanism-driven therapies.
运动障碍通常具有遗传复杂性，遗传风险因素起主要作用。例如，仅2%-5%帕金森病（PD）患者存在单基因病因，这些患者通常发病较早（<40岁）。在大多数患者中，常见的基因变异似乎会增加患病风险。迄今为止，已确定24个遗传风险因素。对于不宁腿综合征（RLS），已报道了6种不同的风险变异，但尚未发现单基因病因。对于研究较少的特发性震颤和肌张力障碍的遗传风险因素，分别仅描述了5个和2个候选变异，但其作用仍需独立验证。在本综述中，我们概述了相关基因及其功能，并讨论了可能的、以疾病机制为导向的治疗方法。
