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Loução, Ricardo; Burkhardt, Julia; Wirths, Jochen; Kabbasch, Christoph; Dembek, Till A.; Heiden, Petra; Cirak, Sebahattin; Al-Fatly, Bassam; Treuer, Harald; Visser-Vandewalle, Veerle; Hoevels, Mauritius; Koy, Anne
NeuroImage, 02/2024, Volume: 287Journal Article
•Mono-center trial investigating imaging data of exclusively patients with dystonia during childhood and adolescence.•Diffusion parameters differ between patients with acquired and inherited dystonia in several brain regions.•Higher fiber density between GPi and putamen of patients with acquired dystonia. Background: Childhood-onset dystonia is often progressive and severely impairs a child´s life. The pathophysiology is very heterogeneous and treatment responses vary in patients with dystonia. Factors influencing treatment effects remain to be elucidated. We hypothesize that differences in brain connectivity and fiber coherence contribute to the heterogeneity in treatment response among pediatric patients with inherited and acquired dystonia. Methods: Twenty patients with childhood-onset dystonia were retrospectively recruited including twelve patients with inherited or idiopathic, and eight patients with acquired dystonia (mean age 10 years; 8 female/12 male). Fiber density between the internal part of the globus pallidus and selective target regions, as well as the diffusion measures of fractional anisotropy (FA) and mean diffusivity (MD) were analyzed and compared between different etiologies. Results: Patients with acquired dystonia presented higher fiber density to the premotor cortex and putamen and lower FA values in the thalamus compared to patients with inherited/idiopathic dystonia. MD in the premotor cortex was higher in patients with acquired dystonia, while it was lower in the thalamus. Conclusion: Diffusion MRI reveals microstructural and network alterations in patients with dystonia of different etiologies.
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