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Purpose <p>Fabry disease (FD), an X‑linked lysosomal disorder caused by deficient α‑galactosidase&#xa0;A (α-Gal&#xa0;A), leads to glycosphingolipid accumulation and multi-organ damage. The specific characteristics and clinical relevance of white matter microstructural damage in FD remain insufficiently explored. This study therefore aimed to explore these specific changes using automated fiber quantification (AFQ), as well as to analyze their correlations with neuropsychological scales and clinical indicators.</p> Methods <p>19&#xa0;FD patients and 22&#xa0;healthy controls (HC) underwent neuropsychological assessments and diffusion tensor imaging (DTI). The AFQ technique was used to extract fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) values at 100 equidistant nodes along 18&#xa0;major white matter tracts. Partial correlation analysis explored relationships between DTI indicators and neuropsychological as well as clinical indicators. ROC analysis was performed to evaluate the diagnostic efficacy of the FA and MD values in differentiating FD patients from HC.</p> Results <p>FD patients showed decreased FA values and increased MD, AD, and RD values in several fiber tracts, particularly in the corticospinal tract (CST) and the cingulum cingulate (CC). Diffusion metrics in the left CC (CC_L) showed significant correlations with neuropsychological scores: the FA values were positively correlated with the MMSE score, while the MD and RD values were negatively correlated with the MMSE score. Additionally, the MD and RD values were positively correlated with the HAMD and HAMA scores, respectively. The AD values of the left CST (CST_L), as well as the MD and AD values of the left arcuate fasciculus (AF_L), were negatively correlated with α‑galactosidase&#xa0;A (α-Gal&#xa0;A) activity in FD patients. Furthermore, ROC analysis demonstrated that the MD values of the right CST (CST_R) achieved superior diagnostic performance (AUC = 0.933).</p> Conclusions <p>FD patients demonstrated segment-specific white matter damage. The abnormalities in these specific fiber segments were associated with symptoms such as cognitive impairment and depression, especially in the CC and CST. These findings may provide novel insights into the clinical symptoms associated with FD and offer new neuroimaging support for disease monitoring in this condition.</p>

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White Matter Microstructural Alterations Are Linked to Cognitive Impairment in Patients with Fabry Disease: an Automated Fiber Quantification Study

  • 期刊论文

  • 发表日期：

    2025年11月25日

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  • Zhongru Sun,
  • Yan Chen,
  • Tianchi Liu,
  • Zhaoting Li,
  • Ning Wang,
  • Ji Zhang,
  • Jingyuan Cao,
  • Jianguo Xia,
  • Weizhong Tian

摘要

Purpose

Fabry disease (FD), an X‑linked lysosomal disorder caused by deficient α‑galactosidase A (α-Gal A), leads to glycosphingolipid accumulation and multi-organ damage. The specific characteristics and clinical relevance of white matter microstructural damage in FD remain insufficiently explored. This study therefore aimed to explore these specific changes using automated fiber quantification (AFQ), as well as to analyze their correlations with neuropsychological scales and clinical indicators.

Methods

19 FD patients and 22 healthy controls (HC) underwent neuropsychological assessments and diffusion tensor imaging (DTI). The AFQ technique was used to extract fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) values at 100 equidistant nodes along 18 major white matter tracts. Partial correlation analysis explored relationships between DTI indicators and neuropsychological as well as clinical indicators. ROC analysis was performed to evaluate the diagnostic efficacy of the FA and MD values in differentiating FD patients from HC.

Results

FD patients showed decreased FA values and increased MD, AD, and RD values in several fiber tracts, particularly in the corticospinal tract (CST) and the cingulum cingulate (CC). Diffusion metrics in the left CC (CC_L) showed significant correlations with neuropsychological scores: the FA values were positively correlated with the MMSE score, while the MD and RD values were negatively correlated with the MMSE score. Additionally, the MD and RD values were positively correlated with the HAMD and HAMA scores, respectively. The AD values of the left CST (CST_L), as well as the MD and AD values of the left arcuate fasciculus (AF_L), were negatively correlated with α‑galactosidase A (α-Gal A) activity in FD patients. Furthermore, ROC analysis demonstrated that the MD values of the right CST (CST_R) achieved superior diagnostic performance (AUC = 0.933).

Conclusions

FD patients demonstrated segment-specific white matter damage. The abnormalities in these specific fiber segments were associated with symptoms such as cognitive impairment and depression, especially in the CC and CST. These findings may provide novel insights into the clinical symptoms associated with FD and offer new neuroimaging support for disease monitoring in this condition.