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Progressive white matter degeneration in patients with spinocerebellar ataxia type 2

  • Advanced Neuroimaging
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Abstract

Purpose

Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder characterized by cerebellar atrophy. However, studies to elucidate the longitudinal progression of the neuropathology are limited. We sought to identify brain macrostructural and microstructural alterations in patients with SCA2 using fixel-based analysis (FBA) to better understand its distribution patterns and progression.

Methods

We enrolled 9 patients with SCA2 and 16 age- and gender-matched controls. Longitudinal clinical and imaging data were collected at baseline, and 3.5 years later. Fiber density (FD), fiber-bundle cross-section (FC), and a combination of FD and FC (FDC) were calculated. The paired t-test was used to examine longitudinal differences. The associations between fixel-based metrics and clinical variables were explored in SCA2 patients.

Results

At baseline, patients with SCA2 displayed multiple white matter tracts with significantly decreased FD, FC, and FDC in the corticospinal tract, cerebellar peduncles, brainstem, corpus callosum, thalamus, striatum, and prefrontal cortex, compared to controls. Over time, many of these macrostructural and microstructural alterations progressed, manifesting lower FD, FC, and FDC in corticospinal tract, middle cerebellar peduncle, brainstem, striatum, fornix, and cingulum. No significant brain white matter alterations were found in the healthy controls over time. There was no association between the FBA-derived metrics and clinical variables in SCA2.

Conclusion

This study provides evidence of brain macrostructural and microstructural alterations and of progression over time in SCA2. The FBA-derived metrics may serve as potential biomarkers of SCA2 progression.

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Data availability

Data are available from a public dataset via OpenNeuro (https://openneuro.org/datasets/ds001378/versions/00003).

Code availability

None.

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Acknowledgements

Data for this study was obtained from the OpenNeuro platform (https://openneuro.org/datasets/ds001378/versions/00003). The authors thank Mascalchi M, Marzi C, Giannelli M, Ciulli S, Bianchi A, Ginestroni A, Tessa C, Nicolai E, Aiello M, Salvatore E, Soricelli A, and Diciotti S for their work on “Histogram analysis of DTI-derived indices reveals pontocerebellar degeneration and its progression in SCA2” (DOI: 10.1371/journal.pone.0200258). Their work provided valuable data and insights that significantly contributed to the findings of this study.

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Authors and Affiliations

  1. Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

    Ye Tu, Zheng Li & Feng Gao

  2. Hubei Key Laboratory of Geriatric Anesthesia and Perioperative Brain Health, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

    Ye Tu, Zheng Li & Feng Gao

  3. Wuhan Clinical Research Center for Geriatric Anesthesia, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

    Ye Tu, Zheng Li & Feng Gao

  4. Department of Radiology, General Hospital of Central Theater Command, Wuhan, China

    Fei Xiong

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  1. Ye Tu
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Correspondence to Fei Xiong or Feng Gao.

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Tu, Y., Li, Z., Xiong, F. et al. Progressive white matter degeneration in patients with spinocerebellar ataxia type 2. Neuroradiology 66, 101–108 (2024). https://doi.org/10.1007/s00234-023-03260-4

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  • DOI: https://doi.org/10.1007/s00234-023-03260-4

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