Article
ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
Parkinsonism & related disorders - 1 Dec 2023
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
Abstract excerpt
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...
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