Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations

Mutations in ATP1A3 , which encodes the α3 subunit of Na, K-ATPase, produce various neurologic and psychological disorders that are increasingly believed to be on a continuum, from severe infantile presentations to adult-onset movement disorders. We present evidence that a single codon deletion can nonetheless produce a typical syndrome of rapid onset dystonia-parkinsonism (RDP, DYT/PARK- ATP1A3 , OMIM 128235).1 The novel heterozygous mutation p.Phe297del (c.889-891delTTC in NM_152296) was identified in 4 patients in 3 different countries with different genetic backgrounds, European, Japanese, and mixed. This supports the idea that there are discrete mutation-related syndromes underlying the continuum of ATP1A3 phenotypes. The authors thank Prof. Keiko Ikeda, Murayama Medical Center, for useful discussion and collaboration on the early stages of this work.