Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

ABSTRACT:

Background and objectives

Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene, which codes for the α-3 subunit of the Na⁺ /K⁺ 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 mutation-negative family members (noncarriers). Potential participants were gathered through referral for clinical suspicion of RDP or alternating hemiplegia of childhood. Inclusion criteria were having a ATP1A3 mutation or being a

SUBMITTER: Haq IU 

PROVIDER: S-EPMC6879786 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature