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.

Read article at journal's website

Related Articles

Responses

Your email address will not be published. Required fields are marked *