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Please use this identifier to cite or link to this item: https://wslhd.intersearch.com.au/wslhdjspui/handle/1/5075
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dc.contributor.authorMartin, Andrew J.-
dc.contributor.authorOng, Tien-Lee-
dc.contributor.authorBriceno-Morales, Hugo-
dc.contributor.authorTchan, Michel-
dc.contributor.authorFung, Victor S. C.-
dc.date.accessioned2022-11-08T02:00:47Z-
dc.date.available2022-11-08T02:00:47Z-
dc.date.issued2022-
dc.identifier.citationMovement Disorders Clinical Practice. 9(8):1120-1123, 2022 Nov-
dc.identifier.urihttps://wslhd.intersearch.com.au/wslhdjspui/handle/1/5075-
dc.description.abstractWe report a 23-year-old man with relapsing encephalopathy with cerebellar ataxia (RECA) secondary to a mutation in ATP1A3, characterized by fever related exacerbations associated with elevated CSF neopterin, and possible response to immunotherapy. This raises the possibility of an inflammatory component to acute neurological deteriorations in ATP1A3-related disease and has potential therapeutic implications.-
dc.subjectNeurology-
dc.titleATP1A3-Related relapsing encephalopathy with cerebellar ataxia (RECA): a genetic disorder with an inflammatory basis?-
dc.typeJournal Article-
dc.identifier.doihttps://dx.doi.org/10.1002/mdc3.13564-
dc.subject.keywordsbrain disease-
dc.subject.keywordscerebellar ataxia-
dc.subject.keywordsdystonia-
dc.subject.keywordsgenetic disorder-
dc.subject.keywordshemiplegia-
dc.subject.keywordsparkinsonism-
dc.subject.keywordsglutamate decarboxylase antibody-
dc.subject.keywordsneopterin-
dc.identifier.journaltitleMovement Disorders Clinical Practice-
dc.identifier.departmentNeurology-
dc.identifier.departmentGenetic Medicine-
dc.contributor.wslhdMartin, Andrew J.-
dc.contributor.wslhdOng, Tien-Lee-
dc.contributor.wslhdBriceno-Morales, Hugo-
dc.contributor.wslhdTchan, Michel C.-
dc.contributor.wslhdFung, Victor S. C.-
dc.type.studyortrialCase Report-
dc.identifier.pmid36339296-
dc.identifier.facilityBlacktown-
dc.identifier.facilityWestmead-
Appears in Collections:Blacktown Mount Druitt Hospital

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