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Journal of Neurology
Published in: Journal of Neurology 3/2024

Open Access 23-11-2023 | Dystonia | Original Communication

Macro- and micro-structural insights into primary dystonia: a UK Biobank study

Authors: Claire L. MacIver, Grace Bailey, Pedro Luque Laguna, Megan E. Wadon, Ann-Kathrin Schalkamp, Cynthia Sandor, Derek K. Jones, Chantal M. W. Tax, Kathryn J. Peall

Published in: Journal of Neurology | Issue 3/2024

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Abstract

Background

Dystonia is a hyperkinetic movement disorder with key motor network dysfunction implicated in pathophysiology. The UK Biobank encompasses > 500,000 participants, of whom 42,565 underwent brain MRI scanning. This study applied an optimized pre-processing pipeline, aimed at better accounting for artifact and improving data reliability, to assess for grey and white matter structural MRI changes between individuals diagnosed with primary dystonia and an unaffected control cohort.

Methods

Individuals with dystonia (n = 76) were identified from the UK Biobank using published algorithms, alongside an age- and sex-matched unaffected control cohort (n = 311). Grey matter morphometric and diffusion measures were assessed, together with white matter diffusion tensor and diffusion kurtosis metrics using tractography and tractometry. Post-hoc Neurite Orientation and Density Distribution Imaging (NODDI) was also undertaken for tracts in which significant differences were observed.

Results

Grey matter tremor-specific striatal differences were observed, with higher radial kurtosis. Tractography identified no white matter differences, however segmental tractometry identified localised differences, particularly in the superior cerebellar peduncles and anterior thalamic radiations, including higher fractional anisotropy and lower orientation distribution index in dystonia, compared to controls. Additional tremor-specific changes included lower neurite density index in the anterior thalamic radiations.

Conclusions

Analysis of imaging data from one of the largest dystonia cohorts to date demonstrates microstructural differences in cerebellar and thalamic white matter connections, with architectural differences such as less orientation dispersion potentially being a component of the morphological structural changes implicated in dystonia. Distinct tremor-related imaging features are also implicated in both grey and white matter.
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Metadata
Title
Macro- and micro-structural insights into primary dystonia: a UK Biobank study
Authors
Claire L. MacIver
Grace Bailey
Pedro Luque Laguna
Megan E. Wadon
Ann-Kathrin Schalkamp
Cynthia Sandor
Derek K. Jones
Chantal M. W. Tax
Kathryn J. Peall
Publication date
23-11-2023
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 3/2024
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-023-12086-2

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