GNAO1 gene-related dystonia

VernacularTitle:GNAO1基因相关肌张力障碍
Author: Shaochen QIN ¹ ; Yanjing LI ; Yifeng LI ; Yiwen WU
Author Information

1. 上海交通大学医学院附属瑞金医院神经内科、帕金森病研究中心，上海　200025
Keywords: Dystonia; GNAO1 gene; Movement disorders
From: Chinese Journal of Neurology 2024;57(11):1263-1268
CountryChina
Language:Chinese
Abstract: Dystonia is a movement disorder characterized by involuntary abnormal movements or postures due to sustained or intermittent muscle contractions. In recent years, rapid progress has been achieved in the genetics of this disease, leading to an in-depth understanding of common genes and phenotypes related to dystonia. GNAO1 is one of the genes closely associated with dystonia. GNAO1 gene, nevertheless, remains largely unknown to most clinicians. This article reviews the molecular genetic features, clinical characteristics, and therapeutic strategies of GNAO1 gene-associated dystonia, thereby increasing the knowledge of clinicians about GNAO1 gene-associated dystonia and preventing underdiagnosis and misdiagnosis in clinical practice.