1.
Parkinsonism Relat Disord
; 117: 105864, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37827923
RESUMO
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.