7T magnetic resonance imaging-based investigation of the correlation between mammillary body structure and cognitive impairment in patients with spinocerebellar ataxia type 3

Abstract

Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary disease characterized by cerebellar atrophy and motor dysfunction. Patients also exhibit non-ataxic symptoms such as cognitive impairment. While prior neuroimaging studies have identified multiple cognition-associated brain regions in SCA3 patients, research on Papez circuit structural damage (e.g., mammillary bodies (MBs)) remains sparse. Advancements in 7T magnetic resonance imaging (MRI) technology have enabled scanning and quantitative analysis of structures such as the MBs within the Papez circuit. In this study, we investigated the relationship between cognitive impairment in patients with SCA3 and structural changes in the three Papez circuit structures: the MBs, the mammillothalamic tract (MTT), and the post-commissural fornix (PF).

Methods: This cross-sectional study included 46 SCA3 patients and 48 healthy controls undergoing 7T MRI and neuropsychological assessments. Using manual delineation and a deep learning model, we extracted the MB, MTT, and PF volumes from participants. Subsequently, we statistically analyzed the quantitative data.

Results: SCA3 patients exhibited reduced MB, PF, and MTT volumes compared with those of the healthy controls. The MB, left MTT, and left PF volumes were significantly lower in cognitive impairment than in cognitive preserved. Cognitive function in SCA3 patients was positively correlated with the MB, left MTT, and left PF, whereas motor function was negatively correlated with the MB and left PF.

Conclusion: Decreased cognitive and memory function in SCA3 patients is associated with MB, MTT, and PF alterations and is more pronounced on the left side. Motor dysfunction may be correlated with cognitive impairment development.

Keywords

spinocerebellar ataxia / cognitive impairment / Papez circuit / 7T MRI / mammillary body

Author contributions

Congwei Li (Data curation, Investigation, Visualization, Writing - original draft), Yunsong Peng (Formal analysis, Investigation, Methodology, Software, Visualization), Peiling Ou (Formal analysis, Project administration, Visualization), Ru Wen (Formal analysis, Supervision, Visualization), Wei Chen (Writing - review & editing), Chong Tian (Investigation, Visualization), Zhiming Zhen (Data curation, Investigation, Resources), Xingang Wang (Data curation, Investigation, Resources), Lan Ou (Formal analysis, Visualization), Chen Liu (Conceptualization, Funding acquisition, Supervision, Writing - review & editing), and Bijia Wang (Conceptualization, Data curation, Supervision)

Conflict of interests

None declared.

Acknowledgments

This study was supported by Young and Middle-aged Senior Medical Talents studio of Chongqing (524Z28921), the National Natural Science Foundation of China (82071910), and Senior Medical Talents Program of Chongqing for Young and Middle-aged (514Z395), and Excellent Young Talent Fund of the First Affiliated Hospital of the Army Medical University (2024YQBJ-2), and Guizhou Provincial People's Hospital Talent Fund (Peng Yunsong) under the Grant Hospital Talent Project [2022]-5. We acknowledge the use of AI language models (e.g. GPT) for language refinement and readability enhancement during preparation of the manuscript. The authors rigorously reviewed and edited the content thereafter, assuming full responsibility for its accuracy, integrity, and ethical compliance.

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