Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia.

ABSTRACT:

Background and purpose

Myoclonus dystonia due to a pathogenic variant in SGCE (MYC/DYT-SGCE) is a rare condition involving a motor phenotype associating myoclonus and dystonia. Dysfunction within the networks relying on the cortex, cerebellum, and basal ganglia was presumed to underpin the clinical manifestations. However, the microarchitectural abnormalities within these structures and related pathways are unknown. Here, we investigated the microarchitectural brain abnormalities related to the motor phenotype in MYC/DYT-SGCE.

Methods

We used neurite orientation dispersion and density imaging, a multicompartment tissue model of diffusion neuroimaging, to compare microarchitectural neurite organization in MYC/DYT-SGCE patients and healthy volunteers (HVs). Neurite density ind

SUBMITTER: Tarrano C 

PROVIDER: S-EPMC11555160 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature