Kuhlenbäumer G, Hopfner F
Klinik für Neurologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Christian-Albrechts-Universität Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland.
Nervenarzt. 2018 Apr;89(4):416-422. doi: 10.1007/s00115-017-0478-9.
Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor.
The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor.
Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines.
The genetics of essential tremor remain unresolved in spite of large, adequately powered studies. Tremor is a symptom of differential diagnostic value in many movement disorders. A slight tremor might have been missed or not reported in many descriptions of movement disorders.
Progress in the genetics of essential tremor probably requires a more detailed phenotyping allowing stratification into phenotypically defined subgroups. Tremor should always be included in the examination and description of movement disorders even if tremor is not a cardinal symptom. Tremor might be helpful in the differential diagnosis of hereditary dystonia, hereditary ataxia, spastic paraplegia and other movement disorders.
震颤是许多疾病的症状，其本身也可能构成一种疾病：特发性震颤。
特发性震颤的遗传学以及具有震颤症状的单基因疾病的鉴别诊断。
文献检索以及临床遗传学数据库检索，如OMIM、GeneReviews、MDSGene和德国神经病学学会（DGN）指南。
尽管进行了大规模、有足够效力的研究，但特发性震颤的遗传学仍未得到解决。震颤在许多运动障碍中是具有鉴别诊断价值的症状。在许多运动障碍的描述中，可能遗漏或未报告轻微震颤。
特发性震颤遗传学的进展可能需要更详细的表型分析，以便分层为表型定义的亚组。即使震颤不是主要症状，在运动障碍的检查和描述中也应始终包括震颤。震颤可能有助于遗传性肌张力障碍、遗传性共济失调、痉挛性截瘫和其他运动障碍的鉴别诊断。
