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Parkinsonism Relat Disord
; 117: 105864, 2023 Dec.
Article
En
| MEDLINE
| ID: mdl-37827923
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.
Dystonia , Dystonic Disorders , Myoclonus , Parkinsonian Disorders , Humans , Dystonia/complications , Myoclonus/complications , Myoclonus/diagnosis , Mutation , Dystonic Disorders/complications , Dystonic Disorders/diagnosis , Dystonic Disorders/genetics , Parkinsonian Disorders/complications , Parkinsonian Disorders/genetics , Sodium-Potassium-Exchanging ATPase