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Article

Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testing

30 Jul 2019

Abstract excerpt

BACKGROUND AND OBJECTIVES: ATPase. It has been characterized by rapid-onset bulbar dysfunction, limb dystonia, bradykinesia, and a rostrocaudal spatial gradient of expression, usually after a physiologic trigger. We reexamined whether these features were in fact characteristic. METHODS: We characterized phenotypic variation within a cohort of 50 ATP1A3 mutation-positive individuals (carriers) and 44...

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PMID: 31361359
DOI: 10.1002/mds.27801

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