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https://wslhd.intersearch.com.au/wslhdjspui/handle/1/5075| Title: | ATP1A3-Related relapsing encephalopathy with cerebellar ataxia (RECA): a genetic disorder with an inflammatory basis? |
| Authors: | Martin, Andrew J.;Ong, Tien-Lee;Briceno-Morales, Hugo;Tchan, Michel;Fung, Victor S. C. |
| WSLHD Author: | Martin, Andrew J.;Ong, Tien-Lee;Briceno-Morales, Hugo;Tchan, Michel C.;Fung, Victor S. C. |
| Subjects: | Neurology |
| Issue Date: | 2022 |
| Citation: | Movement Disorders Clinical Practice. 9(8):1120-1123, 2022 Nov |
| Abstract: | We 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. |
| URI: | https://wslhd.intersearch.com.au/wslhdjspui/handle/1/5075 |
| DOI: | https://dx.doi.org/10.1002/mdc3.13564 |
| Journal: | Movement Disorders Clinical Practice |
| Type: | Journal Article |
| Study or Trial: | Case Report |
| Department: | Neurology Genetic Medicine |
| Facility: | Blacktown Westmead |
| Keywords: | brain disease cerebellar ataxia dystonia genetic disorder hemiplegia parkinsonism glutamate decarboxylase antibody neopterin |
| Appears in Collections: | Blacktown Mount Druitt Hospital |
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