与ATP1A3相关的疾病，表现为快速起病的肌张力障碍-帕金森综合征，伴有明显的肌阵挛和夸张的惊吓反应。
ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
作者信息
Williams L, Waller S E, Bradley M, Lockhart A, Narayanan R K, Kumar K R, Morales Briceno H, Tchan M, Healy D G, Fung V S C
机构信息
Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia.
Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia.
出版信息
Parkinsonism Relat Disord. 2023 Dec;117:105864. doi: 10.1016/j.parkreldis.2023.105864. Epub 2023 Oct 5.
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.
我们报告了4例与ATP1A3相关的快速起病的肌张力障碍-帕金森综合征，其表现不典型，包括肌阵挛和夸张的惊吓反应。这些症状比帕金森综合征更为突出，促使我们考虑对肌阵挛性肌张力障碍进行综合征诊断。GABA能神经元中的ATP1α3功能障碍可以解释这些检查结果。与ATP1A3相关的运动障碍谱包括肌阵挛性肌张力障碍。
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