Abstract：
We report ATP1A3-associated rapid-onset dystonia-parkinsonism with an atypical presentation including myoclonus and exaggerated startle in four patients. Their prominence over parkinsonism prompted consideration of a syndromic diagnosis of myoclonus dystonia. ATP1α3 dysfunction in GABAergic neurons could explain these examination findings. The spectrum of ATP1A3-associated movement disorders includes myoclonus-dystonia.
摘要：
我们报告了与ATP1A3相关的快速发作的肌张力障碍-帕金森综合征，其非典型表现包括肌阵挛性和夸张的惊吓。他们对帕金森病的重视促使人们考虑了肌阵挛性肌张力障碍的综合诊断。GABA能神经元中的ATP1α3功能障碍可以解释这些检查结果。ATP1A3相关运动障碍的范围包括肌阵挛性肌张力障碍。
