{Reference Type}: Case Reports
{Title}: ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
{Author}: Williams L;Waller SE;Bradley M;Lockhart A;Narayanan RK;Kumar KR;Morales Briceno H;Tchan M;Healy DG;Fung VSC;
{Journal}: Parkinsonism Relat Disord
{Volume}: 117
{Issue}: 0
{Year}: 2023 Dec 5
{Factor}: 4.402
{DOI}: 10.1016/j.parkreldis.2023.105864
{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.