Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.

BACKGROUND

Previously, we identified decreased thalamic blood flow in patients with ATP1A3 variants.

OBJECTIVE

This study evaluated structural gray matter organization in rapid-onset dystonia-parkinsonism (RDP) patients compared with controls and two phenotypically overlapping movement disorders.

METHODS

Structural magnetic resonance imaging data were examined for whole-brain gray matter volume (GMV) abnormalities in 17 RDP patients, 20 isolated dystonia patients, 20 Parkinson's disease (PD) patients, and 20 controls.

RESULTS

Left prefrontal cortical volume was increased in the RDP group in all comparisons. RDP patients showed additional bilateral volumetric increases in the right inferior temporal cortex and fusiform gyrus compared with controls, GMV changes in the inferior parietal cortex and thalamus compared with dystonia, and in the cerebellum compared with PD. Negative correlations between RDP duration and GMV were found in the right prefrontal cortex and bilateral caudate nucleus.

CONCLUSION

Our data suggest that structural alterations in RDP involve sensorimotor and executive brain regions. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.