OSCR

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Overview

Authors: Jason W. Robertson1, Isaac Adanyeguh2, David J. Arpin3, Tetsuo Ashizawa4, Benjamin Bender5, Fernando Cendes6,7, Xi Chen8, Giulia Coarelli9, Léo Coutinho10, Andreas Deistung11, Imis Dogan12,13, Alexandra Durr9, Jennifer Faber14,15,16, for the ESMI MR Study Group, Juan Fernandez‐Ruiz17, Mónica Ferreira14,18, Marcondes C. França6,7, Sophia L. Göricke19,20, Shuo Han21, Thomas Klockgether14
and 24 other authorsChen Liu8, Jun Luo8, Alberto R.M. Martinez6,7, Sergio E. Ono22, Chiadi U. Onyike23, Gülin Öz2, for the EUROSCA MR Study Group, Henry Paulson24, Jerry L. Prince25, Kathrin Reetz12,13, Thiago J.R. Rezende6,7, Matthis Synofzik26,27, Hélio A. Ghizoni Teive10,28, Sophia I. Thomopoulos29, Paul M. Thompson29, Dagmar Timmann19,30, David Vaillancourt3,31,32, Bart van de Warrenburg33, Judith van Gaalen33,34, Xingang Wang8, Philipp Wegner14,18, Sarah H. Ying35, Ian H. Harding36,37, Carlos R. Hernandez‐Castillo1
37 affiliations
  1. Faculty of Computer Science Dalhousie University Halifax Nova Scotia Canada
  2. Department of Radiology, Center for Magnetic Resonance Research University of Minnesota Medical School Minneapolis Minnesota USA
  3. Department of Applied Physiology & Kinesiology University of Florida Gainesville Florida USA
  4. Department of Neurology Weill Cornell Medicine at Houston Methodist Research Institute Houston Texas USA
  5. Department of Diagnostic and Interventional Neuroradiology University Hospital Tübingen Tübingen Germany
  6. Department of Neurology School of Medical Sciences, University of Campinas Campinas Brazil
  7. Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), School of Medical Sciences University of Campinas Campinas Brazil
  8. 7T Magnetic Resonance Imaging Translational Medical Center, Department of Radiology, Southwest Hospital Army Medical University (Third Military Medical University) Chongqing China
  9. Sorbonne Université, Paris Brain Institute (ICM), Pitié‐Salpêtrière Hospital, AP‐HP, INSERM, CNRS University Hospital Pitié‐Salpêtrière Paris France
  10. Post‐Graduate Program of Internal Medicine, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná Curitiba Brazil
  11. Department for Radiation Medicine, University Clinic and Outpatient Clinic for Radiology, University Hospital Halle (Saale) University Medicine Halle Halle (Saale) Germany
  12. Department of Neurology RWTH Aachen University Aachen Germany
  13. JARA‐BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Center Jülich GmbH Jülich Germany
  14. German Center for Neurodegenerative Diseases (DZNE) Bonn Germany
  15. Department of Parkinson's Disease Sleep and Movement Disorders, Center of Neurology, University Hospital Bonn Bonn Germany
  16. Department of Neuroradiology University Hospital Bonn Bonn Germany
  17. Neuropsychology Laboratory, Department of Physiology Faculty of Medicine, National Autonomous University of Mexico Mexico City Mexico
  18. Department of Neuroradiology University of Bonn Bonn Germany
  19. Center for Translational Neuro‐ and Behavioral Sciences (C‐TNBS), Essen University Hospital University of Duisburg‐Essen Essen Germany
  20. Institute of Diagnostic and Interventional Radiology and Neuroradiology, Essen University Hospital University of Duisburg‐Essen Essen Germany
  21. Department of Biomedical Engineering Johns Hopkins University Baltimore Maryland USA
  22. Clínica DAPI‐Diagnóstico Avançado Por Imagem Curitiba Brazil
  23. Department of Psychiatry and Behavioral Sciences Johns Hopkins University Baltimore Maryland USA
  24. Department of Neurology University of Michigan Ann Arbor Michigan USA
  25. Department of Electrical and Computer Engineering Johns Hopkins University Baltimore Maryland USA
  26. Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research Tübingen Germany
  27. German Center for Neurodegenerative Diseases (DZNE) Tübingen Germany
  28. Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná Curitiba Brazil
  29. Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine University of Southern California Marina del Rey California USA
  30. Department of Neurology Essen University Hospital, University of Duisburg‐Essen Essen Germany
  31. Department of Neurology University of Florida Gainesville Florida USA
  32. Norman Fixel Institute for Neurological Diseases University of Florida Gainesville Florida USA
  33. Department of Neurology Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center Nijmegen The Netherlands
  34. Department of Neurology Rijnstate Hospital Arnhem The Netherlands
  35. Department of Radiology Johns Hopkins University Baltimore Maryland USA
  36. QIMR Berghofer Medical Research Institute Brisbane Queensland Australia
  37. School of Translational Medicine Monash University Melbourne Victoria Australia
Institutions: Dalhousie University (Canada); University of Minnesota (United States); University of Florida (United States); Houston Methodist (United States); Weill Cornell Medicine (United States); Universitätsklinikum Tübingen (Germany); Universidade Estadual de Campinas (UNICAMP) (Brazil); Brazilian Institute of Neuroscience and Neurotechnology (Brazil); Army Medical University (China); Southwest Hospital (China); Centre National de la Recherche Scientifique (France); Inserm (France); Sorbonne Université (France); Pitié-Salpêtrière Hospital (France); Institut du Cerveau (France); Hospital de Clínicas Universidade Federal do Paraná (Brazil); Universidade Federal do Paraná (Brazil); University Hospital in Halle (Germany); Forschungszentrum Jülich (Germany); Jülich Aachen Research Alliance (Germany); RWTH Aachen University (Germany); University Hospital Bonn (Germany); German Center for Neurodegenerative Diseases (Germany); Universidad Nacional Autónoma de México (Mexico); University of Bonn (Germany); Essen University Hospital (Germany); University of Duisburg-Essen (Germany); Johns Hopkins University (United States); University of Michigan (United States); Hertie Institute for Clinical Brain Research (Germany); University of Southern California (United States); University of Florida Health (United States); Radboud University Nijmegen (Netherlands); Radboud University Medical Center (Netherlands); Donders Institute for Brain, Cognition and Behaviour (Netherlands); Rijnstate Hospital (Netherlands); QIMR Berghofer Medical Research Institute (Australia); Monash University (Australia)
Dates: received 31 October 2025; accepted 16 April 2026; published online 10 May 2026; in print August 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1002/mds.70349 · PMID 42108727 · PMCID PMC13518284 · OpenAlex W7160867414
Open access: hybrid, a free copy (OpenAlex)
Status: dead link
Categories: structural MRI / diffusion (modality), human (organism), other condition (population)
Methods: Statistics, Connectivity, fMRI & imaging
Keywords: Cerebrocerebellar connectivity, Functional brain networks, Neurodegeneration, Spinocerebellar Ataxia, Voxel‐based morphometry
MeSH: Brain*, Machado-Joseph Disease*, Adult, Aged, Atrophy, Cerebellum, Disease Progression, Female, Gray Matter, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Severity of Illness Index, White Matter (* major topic)
Topic: Genetic Neurodegenerative Diseases (Cellular and Molecular Neuroscience, Neuroscience), according to OpenAlex
Funding: Natural Sciences and Engineering Research Council of Canada (RGPIN‐2022‐034638); Canada Research Chairs (CRC‐2020‐00079); Advanced Clinician Scientist Programme (ACCENT) (01EO2107); Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research); Australian National Health and Medical Research Council (Ideas Grant 1184403, Investigator Grant 2026191); eu joint programme – neurodegenerative disease research; European Reference Network for Rare Neurological Diseases; National Ataxia Foundation Clinical Research Consortium; National Science Foundation (EEC‐1460674); HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) (R01NS056307, R01NS080816, U01 NS104326)
Citations: not cited yet (Europe PMC); 52 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

No file of the authors' code could be read here: it is described below, and read at its source.

HardingLab/enigma-ataxia

License: none: the authors keep all their rights
State: the link is dead, verified on 28 September 2026
Evidence: found in the paper
Software Heritage: not archived
Found in: “Data Availability Statement”
Not found: README, license file, CITATION.cff, environment file, tests, continuous integration, documentation
Availability: 1 check, the latest on 28 September 2026: the link is dead
  • 28 September 2026: the link is dead

The paper's code and data availability statement is in the Data section.

Tracing map

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  • no match between paragraphs and code yet;
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Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.

Data

No dataset and no data link were found in the paper.

Code and data availability statement

The paper has a code and data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

Read it in the paper: doi.org/10.1002/mds.70349.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 2, 28 September 2026

  • Publisher: n/a → Wiley

Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 44 authors, 5 keywords, 15 MeSH terms, 10 funders, 47 references.

Cite

This paper

Robertson, J. W., Adanyeguh, I., Arpin, D. J., Ashizawa, T., Bender, B., Cendes, F., Chen, X., Coarelli, G., Coutinho, L., Deistung, A., Dogan, I., Durr, A., Faber, J., for the ESMI MR Study Group, Fernandez‐Ruiz, J., Ferreira, M., França, M. C., Göricke, S. L., Han, S., . . . Hernandez‐Castillo, C. R. (2026). A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia. Movement disorders : official journal of the Movement Disorder Society, 41(8), 2143-2154. https://doi.org/10.1002/mds.70349

BibTeX

@article{robertson2026severity,
author = {Robertson, Jason W. and Adanyeguh, Isaac and Arpin, David J. and Ashizawa, Tetsuo and Bender, Benjamin and Cendes, Fernando and Chen, Xi and Coarelli, Giulia and Coutinho, Léo and Deistung, Andreas and Dogan, Imis and Durr, Alexandra and Faber, Jennifer and {for the ESMI MR Study Group} and Fernandez‐Ruiz, Juan and Ferreira, Mónica and França, Marcondes C. and Göricke, Sophia L. and Han, Shuo and Klockgether, Thomas and Liu, Chen and Luo, Jun and Martinez, Alberto R.M. and Ono, Sergio E. and Onyike, Chiadi U. and Öz, Gülin and {for the EUROSCA MR Study Group} and Paulson, Henry and Prince, Jerry L. and Reetz, Kathrin and Rezende, Thiago J.R. and Synofzik, Matthis and Ghizoni Teive, Hélio A. and Thomopoulos, Sophia I. and Thompson, Paul M. and Timmann, Dagmar and Vaillancourt, David and van de Warrenburg, Bart and van Gaalen, Judith and Wang, Xingang and Wegner, Philipp and Ying, Sarah H. and Harding, Ian H. and Hernandez‐Castillo, Carlos R.},
title = {{A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia}},
journal = {Movement disorders : official journal of the Movement Disorder Society},
year = {2026},
month = may,
volume = {41},
number = {8},
pages = {2143--2154},
publisher = {Wiley},
issn = {0885-3185},
doi = {10.1002/mds.70349},
url = {https://doi.org/10.1002/mds.70349},
pmid = {42108727},
pmcid = {PMC13518284}
}

RIS

TY - JOUR
AU - Robertson, Jason W.
AU - Adanyeguh, Isaac
AU - Arpin, David J.
AU - Ashizawa, Tetsuo
AU - Bender, Benjamin
AU - Cendes, Fernando
AU - Chen, Xi
AU - Coarelli, Giulia
AU - Coutinho, Léo
AU - Deistung, Andreas
AU - Dogan, Imis
AU - Durr, Alexandra
AU - Faber, Jennifer
AU - for the ESMI MR Study Group
AU - Fernandez‐Ruiz, Juan
AU - Ferreira, Mónica
AU - França, Marcondes C.
AU - Göricke, Sophia L.
AU - Han, Shuo
AU - Klockgether, Thomas
AU - Liu, Chen
AU - Luo, Jun
AU - Martinez, Alberto R.M.
AU - Ono, Sergio E.
AU - Onyike, Chiadi U.
AU - Öz, Gülin
AU - for the EUROSCA MR Study Group
AU - Paulson, Henry
AU - Prince, Jerry L.
AU - Reetz, Kathrin
AU - Rezende, Thiago J.R.
AU - Synofzik, Matthis
AU - Ghizoni Teive, Hélio A.
AU - Thomopoulos, Sophia I.
AU - Thompson, Paul M.
AU - Timmann, Dagmar
AU - Vaillancourt, David
AU - van de Warrenburg, Bart
AU - van Gaalen, Judith
AU - Wang, Xingang
AU - Wegner, Philipp
AU - Ying, Sarah H.
AU - Harding, Ian H.
AU - Hernandez‐Castillo, Carlos R.
TI - A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia
T2 - Movement disorders : official journal of the Movement Disorder Society
J2 - Mov Disord
PY - 2026
DA - 2026/05/10
VL - 41
IS - 8
SP - 2143
EP - 2154
SN - 0885-3185
PB - Wiley
DO - 10.1002/mds.70349
UR - https://doi.org/10.1002/mds.70349
LA - en
ER -

CSL-JSON

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