ArticleJournal of neurology, neurosurgery, and psychiatry2024
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Article in Journal of neurology, neurosurgery, and psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Quantitative Ocular Motor / Vestibular Assessment in Patients with Spinocerebellar Ataxia Type 3 (SCA3, Machado Joseph Disease) - Systematic Review of the Literature.Cerebellum (London, England) · 2026Pooled it
- 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
- Somatosensory Evoked Potentials in Spinocerebellar Ataxia Type 3 and Type 10.Cerebellum (London, England) · 2026Article
- Hypothalamic Atrophy and Textural Changes in Polyglutamine Ataxias.Cerebellum (London, England) · 2026Article
- Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.Scientific reports · 2025Article
- Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in theGenes · 2025Article
- SCA1 in Brazil: Local Cohort Profile and Scientific Contributions.Cerebellum (London, England) · 2025Review
- Distinct patterns of cerebral and spinal pathology along the spectrum of ATXN2-related disorders.Journal of neurology · 2025Article
- Early transcriptomic perturbations highlight the spinal cord as a key pathogenic region in spinocerebellar ataxia type 3.Frontiers in cellular neuroscience · 2025Article
Corrections and comments
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Authors and funding
33 authors at 18 institutions in 12 countries.
Funding
Abstract
backgroundSpinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset.
methodsUpper spinal cord (vertebrae C1-C4) cross-sectional area (CSA) and eccentricity (flattening) were assessed using MRI data from nine sites within the ENIGMA-Ataxia consortium, including 364 people with ataxic SCA, 56 individuals with preataxic SCA and 394 nonataxic controls. Correlations and subgroup analyses within the SCA cohorts were undertaken based on disease duration and ataxia severity.
resultsIndividuals in the ataxic stage of SCA1, SCA2 and SCA3, relative to non-ataxic controls, had significantly reduced CSA and increased eccentricity at all examined levels. CSA showed large effect sizes (
conclusionsSpinal cord abnormalities are an early and progressive feature of SCA1, SCA2 and SCA3, but not SCA6, which can be captured using quantitative MRI.
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