Liao James Y, Salles Philippe A, Shuaib Umar A, Fernandez Hubert H
Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
Centro de Trastornos del Movimiento, CETRAM, Santiago, Chile.
J Neural Transm (Vienna). 2021 Apr;128(4):447-471. doi: 10.1007/s00702-021-02335-x. Epub 2021 Apr 30.
The paroxysmal dyskinesias are a diverse group of genetic disorders that manifest as episodic movements, with specific triggers, attack frequency, and duration. With recent advances in genetic sequencing, the number of genetic variants associated with paroxysmal dyskinesia has dramatically increased, and it is now evident that there is significant genotype-phenotype overlap, reduced (or incomplete) penetrance, and phenotypic variability. In addition, a variety of genetic conditions can present with paroxysmal dyskinesia as the initial symptom. This review will cover the 34 genes implicated to date and propose a diagnostic workflow featuring judicious use of whole-exome or -genome sequencing. The goal of this review is to provide a common understanding of paroxysmal dyskinesias so basic scientists, geneticists, and clinicians can collaborate effectively to provide diagnoses and treatments for patients.
发作性运动障碍是一组多样的遗传性疾病，表现为发作性运动，具有特定的触发因素、发作频率和持续时间。随着基因测序技术的最新进展，与发作性运动障碍相关的基因变异数量大幅增加，现在很明显存在显著的基因型-表型重叠、外显率降低（或不完全）以及表型变异性。此外，多种遗传疾病可将发作性运动障碍作为初始症状。本综述将涵盖迄今为止涉及的34个基因，并提出一种明智使用全外显子组或全基因组测序的诊断工作流程。本综述的目的是提供对发作性运动障碍的共同理解，以便基础科学家、遗传学家和临床医生能够有效合作，为患者提供诊断和治疗。
