Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.

ABSTRACT:

Introduction

The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth. Limited information is available on how the motor and nonmotor symptoms evolve over the course of the disease. Our longitudinal study analyzed data from a cohort of RDP patients, documenting their symptoms across multiple visits.

Methods

We characterized the phenotypic evolution of 14 individuals positive for ATP1A3 mutations (7 females, 7 males; mean examination age = 37 years, mean age of onset = 20 years). We focused on neurologic, cognitive, and neuropsychological data collected during in-person visits (mean interval between testing = 5½ years).

Results

Initially, all participants exhibited bulb

SUBMITTER: Haq IU 

PROVIDER: S-EPMC11802185 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature