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

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

Journal of Neurology, Volume: 271, Issue: 3, Pages: 1416 - 1427

Swansea University Author: Grace Bailey Orcid Logo

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DOI (Published version): 10.1007/s00415-023-12086-2

Abstract

BackgroundDystonia 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 account...

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Published in: Journal of Neurology
ISSN: 0340-5354 1432-1459
Published: Springer Science and Business Media LLC 2024
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URI: https://cronfa.swan.ac.uk/Record/cronfa66534
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Abstract: BackgroundDystonia 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.MethodsIndividuals 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.ResultsGrey 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.ConclusionsAnalysis 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.
Keywords: Dystonia; MRI; Diffusion MRI; Structural MRI
College: Faculty of Medicine, Health and Life Sciences
Funders: This work was supported by an ABN/Guarantors of Brain Clinical Research Training Fellowship (520,286) and a Wellcome Trust Translation of Concept Scheme (Institutional Translational Partnership Award) (520,958). KJP is funded by an MRC Clinician-Scientist Fellowship & Transition Award (MR/P008593/1, MR/V036084/1). CMWT is supported by a Sir Henry Wellcome Fellowship (215,944/Z/19/Z) and a Veni grant from the Dutch Research Council (NWO) (17,331). DKJ is supported by Wellcome Trust grants (096646/Z/11/Z and 104,943/Z/14/Z).
Issue: 3
Start Page: 1416
End Page: 1427

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