A specific pathway between the lenticular nucleus and the cerebellum might play a key role in the pathogenesis of Wilson’s disease (WD), according to a study recently published in Brain Sciences.
“Together, these findings highlight that lenticular nucleus–cerebellum circuits may serve as neural biomarkers of dystonia and provide implications for the neural mechanisms underlying dystonia in WD,” the authors wrote.
Read more about WD comorbidities
This observational study included 37 patients previously diagnosed with WD who were currently experiencing limb dystonia and 37 age and sex-matched individuals without WD who served as the healthy controls.
Participants were native Chinese-speaking patients from a single center in China. Most participants were male in both groups, with 20 and 25 men in the WD and control groups, respectively. Mean age was 23.95 years for the WD group and 25.19 years for the control group.
All individuals underwent resting-state functional magnetic resonance imaging (RS-fMRI) to assess the dimensions and characteristics of the lenticular nucleus. Moreover, the Unified Wilson Disease Rating Scale (UWDRS) and biomechanical muscle parameters determined the degree of dystonia and the overall clinical picture of each patient.
Interestingly, the seed-based functional connectivity was markedly decreased among patients with WD in all subregions of the putamen identified according to the dorsal, ventral, anterior, and posterior locations.
The only exception was the left ventral anterior part of the cerebellum, which did not display any difference among the WD and control groups. Likewise, the functional connectivity was reduced in the left globus pallidus, especially the middle cingulate cortex, and from the right globus pallidus to the cerebellum in individuals with WD.
Another noteworthy finding is that the diminished functional connectivity observed from the putamen to the middle cingulate cortex correlated with psychiatric manifestations, while lower functional connectivity from the putamen to the cerebellum correlated with neurological manifestations and muscle tension. The functional connectivity from the globus pallidus to the cerebellum is further associated with muscle tension.
“In addition, this study has potential clinical application value in that the cerebellum may serve as a potential target for TMS to treat dystonia and neurological symptoms of WD,” the authors highlighted.
Yang Y, Wei T, Yang W, et al. Dysfunction of the lenticular nucleus is associated with dystonia in Wilson’s disease. Brain Sci. Published online December 20, 2022. doi:10.3390/brainsci13010007