Familial case of rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3, DYT12)

Abstract

Rapid-onset dystonia-parkinsonism (RDP) is one of the best-known and most frequently encountered phenotypes of ATP1A3-associated disorders. It is characterized by acute or subacute onset of dystonia, parkinsonism, and bulbar symptoms, typically triggered by provoking factors such as fever, infections, or physical exertion. In clinical practice, RDP is challenging to recognize due to atypical symptoms that do not fit the established diagnostic criteria, overlap with other phenotypes within this group of disorders, and the frequent absence of a positive family history. Only two clinical cases of RDP have been described in the Russian literature. This article presents two new patients from a single family with the RDP phenotype and a likely pathogenic variant in the ATP1A3 gene, c.2974GA (p.Asp992Asn). A literature review covering pathogenesis, diagnosis, and treatment of the group of disorders caused by various ATP1A3 variants is provided.