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ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
Williams, L; Waller, S E; Bradley, M; Lockhart, A; Narayanan, R K; Kumar, K R; Morales Briceno, H; Tchan, M; Healy, D G; Fung, V S C.
Afiliación
  • Williams L; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia. Electronic address: laurajane.williams@health.nsw.gov.au.
  • Waller SE; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia.
  • Bradley M; Department of Neurology, Beaumont Hospital, Beaumont, Dublin 9, Ireland.
  • Lockhart A; Department of Neurology, Beaumont Hospital, Beaumont, Dublin 9, Ireland.
  • Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
  • Kumar KR; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Faculty of Medicine and Health, University of New South Wales, Australia; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General
  • Morales Briceno H; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia.
  • Tchan M; Department of Medical Genetics, Westmead Hospital, Westmead, NSW, 2145, Australia.
  • Healy DG; Department of Neurology, Beaumont Hospital, Beaumont, Dublin 9, Ireland.
  • Fung VSC; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia; Faculty of Medicine and Health, University of New South Wales, Australia.
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Parkinsonianos / Trastornos Distónicos / Distonía / Mioclonía Límite: Humans Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Parkinsonianos / Trastornos Distónicos / Distonía / Mioclonía Límite: Humans Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article