Purpose of Review

Tremor is an important phenotypic feature of dystonia with wide variability in the reported prevalence ranging from 14 to 86.67%. This variability may be due to the types of dystonia patients reported in different studies. This article reviews research articles reporting tremor in primary monogenic dystonia.

Recent Findings

We searched the MDS gene data and selected all research articles reporting tremor in primary monogenic dystonia. Tremor was reported in nine dystonia genes, namely DYT-HPCA, DYT-ANO3, DYT-KCTD17, DYT-THAP1, DYT-PRKRA, DYT-GNAL, DYT-TOR1A, DYT-KMT2B, and DYT-SGCE in the descending order of its frequency. HPCA gene mutation is rare, but all reported patients had tremor. Similarly, tremor was reported in eight genes associated with dystonia parkinsonism, namely DYT-SLC6A3, DYT-TH, DYT-SPR, DYT-PTS, DYT-GCH1, DYT-TAF1, DYT-QDPR, and DYT-SCL30A10 in the descending order of its prevalence.

Summary

DYT-HPCA and DYT-ANO3 gene showed the highest prevalence of tremor in isolated dystonia, and DYT-SLC6A3 has the highest prevalence of tremor in combined dystonia.

中文翻译：

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原发性单源性肌张力障碍的震颤

审查目的

震颤是肌张力障碍的一个重要表型特征，报告的患病率差异很大，范围从 14% 到 86.67%。这种差异可能是由于不同研究报告的肌张力障碍患者的类型所致。本文回顾了报道原发性单基因肌张力障碍震颤的研究文章。

最近的发现

我们检索了 MDS 基因数据并选择了所有报道原发性单基因肌张力障碍震颤的研究文章。震颤基因在DYT-HPCA、DYT-ANO3、DYT-KCTD17、DYT-THAP1、DYT-PRKRA、DYT-GNAL、DYT-TOR1A、DYT-KMT2B、DYT-SGCE等9个基因中呈递减顺序报道它的频率。HPCA 基因突变很少见，但所有报告的患者都有震颤。同样，在与肌张力障碍性帕金森病相关的 8 个基因中报告了震颤，即DYT-SLC6A3、DYT-TH、DYT-SPR、DYT-PTS、DYT-GCH1、DYT-TAF1、DYT-QDPR和DYT-SCL30A10按其患病率的降序排列。

概括

DYT-HPCA和DYT-ANO3基因在孤立性肌张力障碍中的震颤发生率最高，而DYT-SLC6A3在合并性肌张力障碍中的震颤发生率最高。