ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
Parkinsonism Relat Disord
; 117: 105864, 2023 Dec.
Article
en En
| MEDLINE
| ID: mdl-37827923
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Parkinsonianos
/
Trastornos Distónicos
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Distonía
/
Mioclonía
Límite:
Humans
Idioma:
En
Revista:
Parkinsonism Relat Disord
Asunto de la revista:
NEUROLOGIA
Año:
2023
Tipo del documento:
Article