ArticleMovement disorders : official journal of the Movement Disorder Society2026
Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1.
Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.Journal of neurology · 2026Article
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12 authors.
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Abstract
backgroundSpinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology. Magnetic resonance imaging (MRI)-based spinal cord measurements could, therefore, serve as staging or monitoring biomarkers. However, previous findings were limited to cross-sectional analyses, and longitudinal changes remain unexplored.
objectivesThis study investigates both cross-sectional and longitudinal cervical spinal cord alterations in SCA1 mutation carriers compared to healthy controls, evaluating the utility of this biomarker.
methodsBaseline and 1-year MRI changes were assessed in 40 controls, 16 preataxic and 58 symptomatic SCA1 mutation carriers. T1-weighed images were processed with FreeSurfer and the Spinal Cord Toolbox. We related Z-scores to disease duration, calculated standardized response means, and analyzed clinico-genetic associations using a linear mixed model.
resultsThe three groups differed significantly in cross-sectional area (CSA) at all levels at baseline. Over time, CSA at levels C1 and C2 decreased in the preataxic and symptomatic groups compared to controls. Preataxic carriers already showed pronounced spinal cord atrophy, whereas pontine changes emerged later in the disease course. Standardized response means were highest for CSA at C2 in preataxic stage, whereas this was pontine volume at symptomatic stage, indicating region-specific biomarkers across disease stages.
conclusionCervical spinal cord atrophy is an early and progressive feature of SCA1, detectable before clinical onset, providing a promising imaging biomarker for early disease stages. Our findings suggest a caudal to rostral progression of atrophy in SCA1. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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