Macro- and micro-structural Insights into primary dystonia A UK Biobank study

MacIver, Claire, Bailey, Grace, Luque Laguna, Pedro, Wadon, Megan, Schalkamp, Ann-Kathrin, Sandor, Cynthia ORCID: https://orcid.org/0000-0002-8905-1052, Jones, Derek ORCID: https://orcid.org/0000-0003-4409-8049, Tax, Chantal ORCID: https://orcid.org/0000-0002-7480-8817 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2023. Macro- and micro-structural Insights into primary dystonia A UK Biobank study. Journal of Neurology 10.1007/s00415-023-12086-2

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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.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine Neuroscience and Mental Health Research Institute (NMHRI) Cardiff University Brain Research Imaging Centre (CUBRIC) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Springer
ISSN:	0340-5354
Funders:	MRC, Wellcome Trust
Date of First Compliant Deposit:	22 November 2023
Date of Acceptance:	27 October 2023
Last Modified:	12 Jan 2024 15:02
URI:	https://orca.cardiff.ac.uk/id/eprint/164208

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