ArticleMovement disorders : official journal of the Movement Disorder Society2021
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Article in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 54 citations in OpenAlex.
- Stage-Specific Patterns of Imaging and Non-Motor Biomarkers in Spinocerebellar Ataxia Type 3.Annals of clinical and translational neurology · 2026Article
- Article
- A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Abnormal Local Brain Activity in SCA3 Patients with Cognitive Impairment: A Resting-State Functional MRI Study.Cerebellum (London, England) · 2026Article
- Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.Nature reviews. Neurology · 2026Review
- Neurochemical Endpoints to Inform Early-Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting.Annals of clinical and translational neurology · 2026Article
- Article
- Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.Cerebellum (London, England) · 2026Article
- Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.EBioMedicine · 2026Article
- Regional brain atrophy subtypes in spinocerebellar ataxia type 3: links to clinical performance and treatment response.Journal of neurology · 2025Article
- Altered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre-Symptomatic to Symptomatic Stage.European journal of neurology · 2025Article
- Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice.Neurobiology of disease · 2025Article
- Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.Orphanet journal of rare diseases · 2025Article
- Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3.Frontiers in cellular neuroscience · 2025Article
- Review
- Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.Neurology · 2024Observational
- Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.Cerebellum (London, England) · 2024Article
- Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.Journal of neurology, neurosurgery, and psychiatry · 2024Article
Corrections and comments
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Authors and funding
31 authors at 16 institutions in 9 countries.
Funding
Abstract
backgroundGiven that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease-related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity.
objectiveThe objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease.
methodsWe applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of 210 ataxic and 48 preataxic spinocerebellar ataxia type 3 mutation carriers and 63 healthy controls. In addition, cervical cord cross-sectional areas were determined at 2 levels.
resultsThe metrics of cervical spinal cord segments C3 and C2, medulla oblongata, pons, and pallidum, and the cerebellar anterior lobe were reduced in preataxic mutation carriers compared with controls. Those of cervical spinal cord segments C2 and C3, medulla oblongata, pons, midbrain, cerebellar lobules crus II and X, cerebellar white matter, and pallidum were reduced in ataxic compared with nonataxic carriers. Of all metrics studied, pontine volume showed the steepest decline across the disease course. It covaried with ataxia severity, CAG repeat length, and age. The multivariate model derived from this analysis explained 46.33% of the variance of pontine volume.
conclusionRegional brain and spinal cord tissue loss in spinocerebellar ataxia type 3 starts before ataxia onset. Pontine volume appears to be the most promising imaging biomarker candidate for interventional trials that aim at slowing the progression of spinocerebellar ataxia type 3. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.