Klebe Stephan, Timmann Dagmar
Klinik für Neurologie, Universitätsmedizin Essen, Hufelandstr. 55, 45147, Essen, Deutschland.
Nervenarzt. 2019 Feb;90(2):197-210. doi: 10.1007/s00115-018-0659-1.
Rare genetic movement disorders are a heterogeneous group of diseases. The causes of many of these rare movement disorders could be resolved due to the progress in molecular genetic diagnostics. This led to a better pathophysiological characterization of rare movement disorders and also to the fact that many phenotypical overlaps could be found between different diseases. The classification of genetic results requires a close cooperation between neurologists and geneticists. Therefore, modern diagnostic procedures cannot replace the clinical classification of genetic movement disorders and the exact patient history. This article provides the reader with an overview of the most important groups of genetic movement disorders. Genetic Parkinson syndromes, dystonia, essential tremor, genetic chorea, cerebellar ataxia and hereditary spastic paraplegia are dealt with in detail. For a better understanding individual genetic terms are explained and differences in molecular genetic diagnostics are presented.
罕见遗传性运动障碍是一组异质性疾病。由于分子遗传学诊断技术的进步，许多这类罕见运动障碍的病因得以明确。这使得对罕见运动障碍有了更好的病理生理学特征描述，同时也发现不同疾病之间存在许多表型重叠现象。基因检测结果的分类需要神经科医生和遗传学家密切合作。因此，现代诊断程序无法取代遗传性运动障碍的临床分类和详细的患者病史。本文为读者概述了遗传性运动障碍的最重要类别。详细介绍了遗传性帕金森综合征、肌张力障碍、特发性震颤、遗传性舞蹈症、小脑共济失调和遗传性痉挛性截瘫。为便于理解，文中解释了个别遗传学术语，并介绍了分子遗传学诊断方面的差异。
