Mapping the Neuroanatomy of Dystonia Using Causal Brain Lesions

Dystonia is one of the most prevalent movement disorders, but its neural substrates have remained enigmatic despite decades of research. Brain lesions leading to dystonia offer unique causal inference that could lend insight into the neural networks driving the disorder. Here, we studied the published cases of lesions causing dystonia to a variety of different body parts (n=179) and used lesion network mapping to test whether lesion locations mapped to a common brain network. Specificity was investigated by comparing the findings to 216 lesions causing other movement disorders, and 499 lesions causing non-specific neurological symptoms. While lesions causing dystonia occurred in heterogeneous locations, they localised to a common and specific cortico-basal ganglia-cerebellar network. Stronger connectivity to this dystonia network from a causal brain lesion was associated with a greater extent of dystonia throughout the body. Further, there were significant differences in the brain networks depending on the body parts affected by dystonia, which also demonstrated different somatotopic representations in the cerebellum. Our results suggest that dystonia stems from a cortico-basal ganglia-cerebellar network, with the manifestation in the body depending on the preferential involvement of the hubs of the network, and its somatotopy.

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Publication Details

Journal
medRxiv
Published
2025-12-11
DOI
https://doi.org/10.64898/2025.12.07.25341373
Primary Topic
Neurological disorders and treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Mapping the Neuroanatomy of Dystonia Using Causal Brain Lesions

Elizabeth G. Ellis, Martin M. Reich, Jaakko Kungshamn, Hyder A. Jinnah et al.
medRxiv
Neurological disorders and treatments
article

Mapping the Neuroanatomy of Dystonia Using Causal Brain Lesions

Elizabeth G. Ellis, Martin M. Reich, Jaakko Kungshamn, Hyder A. Jinnah, Maximilian Friedrich, Shiro Horisawa, Kalle J. Niemi, Juho Joutsa, Christopher Greenwood, Jordan Morrison-Ham, Michael Fox
article en

Abstract

Dystonia is one of the most prevalent movement disorders, but its neural substrates have remained enigmatic despite decades of research. Brain lesions leading to dystonia offer unique causal inference that could lend insight into the neural networks driving the disorder. Here, we studied the published cases of lesions causing dystonia to a variety of different body parts (n=179) and used lesion network mapping to test whether lesion locations mapped to a common brain network. Specificity was investigated by comparing the findings to 216 lesions causing other movement disorders, and 499 lesions causing non-specific neurological symptoms. While lesions causing dystonia occurred in heterogeneous locations, they localised to a common and specific cortico-basal ganglia-cerebellar network. Stronger connectivity to this dystonia network from a causal brain lesion was associated with a greater extent of dystonia throughout the body. Further, there were significant differences in the brain networks depending on the body parts affected by dystonia, which also demonstrated different somatotopic representations in the cerebellum. Our results suggest that dystonia stems from a cortico-basal ganglia-cerebellar network, with the manifestation in the body depending on the preferential involvement of the hubs of the network, and its somatotopy.

medRxiv
Royal Children's Hospital (AU), Deakin University (AU), Emory University (US), University of Turku (FI), Emory University Hospital (US), Turku University Hospital (FI), Circuit Therapeutics (United States) (US), Universitätsklinikum Würzburg (DE), Tokyo Women's Medical University (JP), Murdoch Children's Research Institute (AU), University Hospital Cologne (DE), University Hospital Ulm (DE)
GlaxoSmithKline, International Parkinson and Movement Disorder Society, Boston Scientific Corporation, European Commission, Deutsche Forschungsgemeinschaft, Deakin University, Bundesministerium für Bildung und Forschung, Suomen Kulttuurirahasto, Turun Yliopisto, Turun Yliopistollisen Keskussairaalan Koulutus- ja Tutkimussäätiö, Turun Yliopistollinen Keskussairaala, Turun Yliopistosäätiö, Parkinsonfonden
Openalex Percentile: Top 44%
Neurological disorders and treatments
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