Evidence map›Paper›PMID 39927598›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2025

The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia.

Jason W Robertson, Isaac Adanyeguh, Benjamin Bender, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Léo Coutinho, Andreas Deistung, Stefano Diciotti, Imis Dogan and 26 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors.

Jason W RobertsonFaculty of Computer Science, Dalhousie University, Halifax, Nova Scotia, Canada.ORCID https://orcid.org/0000-0003-0579-0403
Isaac AdanyeguhSorbonne Université, Institut du Cerveau, INSERM, CNRS, AP-HP, Paris, France.
Benjamin BenderDepartment of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, Tübingen, Germany.
Sylvia BoeschDepartment of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Arturo BrunettiDepartment of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
Sirio CocozzaDepartment of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.ORCID https://orcid.org/0000-0002-0300-5160
Léo CoutinhoPost-Graduate Program of Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.ORCID https://orcid.org/0000-0003-4921-2939
Andreas DeistungUniversity Clinic and Outpatient Clinic for Radiology, Department for Radiation Medicine, University Hospital Halle (Saale), University Medicine Halle, Halle (Saale), Germany.
Stefano DiciottiDepartment of Electrical, Electronic, and Information Engineering "Guglielmo Marconi", University of Bologna, Bologna, Italy.
Imis DoganDepartment of Neurology, RWTH Aachen University, Aachen, Germany.
Alexandra DurrSorbonne Université, Institut du Cerveau, INSERM, CNRS, AP-HP, Paris, France.
Juan Fernandez-RuizNeuropsychology Laboratory, Department of Physiology, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.ORCID https://orcid.org/0000-0002-4038-0904
Sophia L GörickeCenter for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
Marina GrisoliDepartment of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Shuo HanDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland, USA.
Caterina MariottiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0003-2405-3564
Chiara MarziDepartment of Statistics, Computer Science, and Applications "Giuseppe Parenti", University of Florence, Florence, Italy.
Mario MascalchiDepartment of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
Fanny MochelSorbonne Université, Institut du Cerveau, INSERM, CNRS, AP-HP, Paris, France.
Wolfgang NachbauerDepartment of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Lorenzo NanettiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Anna NigriDepartment of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID https://orcid.org/0000-0002-1197-5458
Sergio E OnoClínica DAPI-Diagnóstico Avançado Por Imagem, Curitiba, Brazil.
Chiadi U OnyikeDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, Maryland, USA.
Jerry L PrinceDepartment of Electrical and Computer Engineering, Johns Hopkins University, Baltimore, Maryland, USA.
Kathrin ReetzDepartment of Neurology, RWTH Aachen University, Aachen, Germany.ORCID https://orcid.org/0000-0002-9730-9228
Sandro RomanzettiDepartment of Neurology, RWTH Aachen University, Aachen, Germany.
Francesco SaccàDepartment of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples "Federico II", Naples, Italy.ORCID https://orcid.org/0000-0002-1323-6317
Matthis SynofzikDepartment of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany.ORCID https://orcid.org/0000-0002-2280-7273
Hélio A Ghizoni TeivePost-Graduate Program of Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.
Sophia I ThomopoulosImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Dagmar TimmannCenter for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
Sarah H YingDepartment of Radiology, Johns Hopkins University, Baltimore, Maryland, USA.
Ian H HardingQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Carlos R Hernandez-CastilloFaculty of Computer Science, Dalhousie University, Halifax, Nova Scotia, Canada.ORCID https://orcid.org/0000-0003-1208-5577

Funding

Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1M
Automatic Cerebellar MRI Labeling In Health and DiseaseR01NS056307 · NINDS · JOHNS HOPKINS UNIVERSITY · PI PRINCE, JERRY L · 2006 to 2015
$3.0M
Bundesministerium für Bildung und Forschung 01DN18022Bundesministerium für Bildung und Forschung 01GQ1402Canada Research Chairs CRC-2020-00079Consejo Nacional de Ciencia y Tecnología A1-S-10669Deutsche Forschungsgemeinschaft 4414096270Deutsche Forschungsgemeinschaft DE 256/1-1Deutsche Forschungsgemeinschaft TI 239/17-1Dirección General de Asuntos del Personal Académico, Universidad Nacional Autónoma de México IN214122National Ataxia FoundationNational Science Foundation EEC-1460674Natural Sciences and Engineering Research Council of Canada RGPIN-2022-03368NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1TR001079NINDS NIH HHS R01 NS056307NINDS NIH HHS R01NS056307
6 · The paper itself

Abstract

backgroundSpinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterized by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2; however, the evolution and pattern of whole-brain atrophy in SCA2 remain unclear.

objectiveWe undertook a multisite, structural magnetic resonance imaging (MRI) study to comprehensively characterize the neurodegeneration profile of SCA2.

methodsVoxel-based morphometry analyses of 110 participants with SCA2 and 128 controls were undertaken to assess groupwise differences in whole-brain volume. Correlations with clinical severity and genotype, and cross-sectional profiling of atrophy patterns at different disease stages, were also performed.

resultsAtrophy in SCA2 versus controls was greatest (Cohen's d >2.5) in the cerebellar white matter (WM), middle cerebellar peduncle, pons, and corticospinal tract. Very large effects (d >1.5) were also evident in the superior cerebellar, inferior cerebellar, and cerebral peduncles. In the cerebellar gray matter (GM), large effects (d >0.8) were observed in areas related to both motor coordination and cognitive tasks. Strong correlations (|r| > 0.4) between volume and disease severity largely mirrored these groupwise outcomes. Stratification by disease severity exhibited a degeneration pattern beginning in the cerebellar and pontine WM in preclinical subjects; spreading to the cerebellar GM and cerebro-cerebellar/corticospinal WM tracts; and then finally involving the thalamus, striatum, and cortex in severe stages.

conclusionThe magnitude and pattern of brain atrophy evolve over the course of SCA2, with widespread, nonuniform involvement across the brainstem, cerebellar tracts, and cerebellar cortex; and late involvement of the cerebral cortex and striatum. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

BrainSpinocerebellar AtaxiasAdultAgedAtrophyCerebellumCross-Sectional StudiesFemaleGray MatterHumansMagnetic Resonance ImagingMaleMiddle AgedWhite Mattercerebellumdisease stagingmagnetic resonance imaging (MRI)spinocerebellar ataxia type 2Voxel‐based morphometry

Identifiers

PMID39927598
PMCPMC12006884

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