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- 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.
- Abstract
Relapsing encephalopathy with cerebellar ataxia, neopterin, ATP1A3, RECA, rapid-onset dystonia parkinsonism, alternating hemiplegia of childhood, CAPOS, anti-GAD Keywords: ATP1A3; relapsing encephalopathy with cerebellar ataxia; RECA; rapid-onset dystonia parkinsonism; alternating hemiplegia of childhood; CAPOS; neopterin; anti-GAD EN ATP1A3 relapsing encephalopathy with cerebellar ataxia RECA rapid-onset dystonia parkinsonism alternating hemiplegia of childhood CAPOS neopterin anti-GAD 1120 1123 4 11/07/22 20221101 NES 221101 We report a 23-year-old man with relapsing encephalopathy with cerebellar ataxia (RECA) secondary to a mutation in I ATP1A3 i , characterized by fever related exacerbations associated with elevated CSF neopterin, and possible response to immunotherapy. Dystonia and tremor of the hands, bilateral upper limb dysmetria and intention tremor, and action myoclonus of the upper limbs.
- Subjects
GENETIC disorders; CEREBELLAR ataxia; BRAIN diseases; HEMIPLEGIA; PEDIATRIC neurology; MULTIPLE system atrophy; MOVEMENT disorders
- Publication
Movement Disorders Clinical Practice, 2022, Vol 9, Issue 8, p1120
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13564