4.5 Article

Thalamic structural connectivity profiles in blepharospam/ Meige?s syndrome

Journal

NEUROIMAGE-CLINICAL
Volume 34, Issue -, Pages -

Publisher

ELSEVIER SCI LTD
DOI: 10.1016/j.nicl.2022.103013

Keywords

Focal dystonia; Diffusion tractography; Thalamus connectivity mapping; Blepharospasm

Categories

Funding

  1. Deutsche Forschungsgemeinschaft [DFG HA3370/5-1]
  2. German Dystonia Society

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Through diffusion imaging study of patients with blepharospasm and healthy controls, we found abnormal brain connectivity in patients, especially in connections related to vision and movement. The cerebellum may also contribute to the occurrence of this disease.
Background: Blepharospasm is a debilitating focal dystonia characterized by involuntary eyelid spasms that can be accompanied by oromandibular muscle involvement (Meige's syndrome). Frequently observed abnormality in functional neuroimaging hints at an important position of the thalamus, that relays involved cortico-basal ganglia-cortical and cortico-cerebello-cortical circuits, within the abnormal network in blepharospasm.Objective: To characterize abnormal cortico-thalamic structural/streamline connectivity (SC) patterns in the disease, as well as their potential co-occurrence with abnormal subcortico-thalamo-cortical projections using diffusion tractography.Methods: Diffusion imaging was obtained in 17 patients with blepharospasm (5 with mild lower facial involvement) and 17 healthy controls. Probabilistic tractography was used for quantification of SC between six cortical regions and thalamus, and voxel-level thalamic SC mapping as well as evaluation of the thalamic SC distributions' topography by center-of-gravity analysis was performed. Post-hoc, correlations of SC with clinical parameters were evaluated. Further, white matter integrity was investigated within representative segments of the dentato-thalamo-cortical and pallido-thalamo-cortical tract.Results: Connectivity mapping showed significant reduction of right (pre)motor- and left occipital-thalamic SC, as well as a topographic shift of the left occipital-thalamic SC distribution in patients. Significant positive correlation of occipital-thalamic SC with disease severity was found. Post-hoc analysis revealed significantly reduced mean fractional anisotropy in patients within the dentato-thalamo-cortical trajectory connecting to right (pre) motor and left occipital cortex.Conclusion: Abnormal occipital/motor SC provides evidence for dysfunction of the thalamus-relayed visual and motor network as a key aspect in the disease. Concurrent impairment of microstructural integrity within the dentato-thalamic trajectories targeting those cortices hints at cerebellar contribution.

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