%0 Case Reports
%T ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
%A Williams L
%A Waller SE
%A Bradley M
%A Lockhart A
%A Narayanan RK
%A Kumar KR
%A Morales Briceno H
%A Tchan M
%A Healy DG
%A Fung VSC
%J Parkinsonism Relat Disord
%V 117
%N 0
%D 2023 Dec 5
%M 37827923
%F 4.402
%R 10.1016/j.parkreldis.2023.105864
%X 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.