Weiner Simon, Perleth Sarah, Kampf Thomas, Lau Kolja, Hessenauer Florian, Homola György, Nordbeck Peter, Üçeyler Nurcan, Sommer Claudia, Pham Mirko, Schindehütte Magnus
Department of Neuroradiology, University Hospital Würzburg, 97080 Würzburg, Germany.
Department of Internal Medicine, University Hospital Würzburg, 97080 Würzburg, Germany.
Biomedicines. 2025 Feb 28;13(3):592. doi: 10.3390/biomedicines13030592.
: Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterised by progressive glycolipid accumulation affecting multiple organs, including the peripheral nervous system. The dorsal root ganglia (DRG) play a key role in Fabry-related neuropathy, but non-invasive biomarkers of DRG involvement and their association with overall disease severity remain limited. This study evaluated lumbosacral DRG T2 relaxation time (DRG-T2) in FD patients as a potential imaging biomarker of FD severity. : In a prospective, single-centre study, 80 genetically confirmed FD patients underwent 3T MRI with quantitative T2 mapping of the lumbosacral DRG. DRG-T2 was analysed in relation to sex, genetic subtype and Fabry-specific biomarkers. : Results showed that DRG-T2 was higher in patients with classical FD mutations than in those with nonclassical mutations ( = 0.03). Furthermore, DRG-T2 showed a negative correlation with body weight (ρ = -0.31, = 0.005) and BMI (ρ = -0.32, = 0.004), while no associations were found with lyso-Gb3 levels or alpha-galactosidase A activity. The inter-rater and test-retest reliability of DRG-T2 were good to excellent (ICC = 0.76 and 0.89, respectively). : These results demonstrate DRG-T2 as a marker of neuronal involvement, making it a strong and reliable imaging biomarker of disease severity in FD. However, future studies need to correlate its changes with clinical and histological studies.
法布里病（FD）是一种罕见的X连锁溶酶体贮积症，其特征是糖脂进行性蓄积，影响包括周围神经系统在内的多个器官。背根神经节（DRG）在法布里病相关神经病变中起关键作用，但DRG受累的非侵入性生物标志物及其与疾病总体严重程度的关联仍然有限。本研究评估了FD患者腰骶部DRG的T2弛豫时间（DRG-T2），作为FD严重程度的潜在影像学生物标志物。：在一项前瞻性单中心研究中，80例经基因确诊的FD患者接受了3T磁共振成像（MRI）检查，并对腰骶部DRG进行了定量T2成像。分析了DRG-T2与性别、基因亚型和法布里病特异性生物标志物的关系。：结果显示，具有经典FD突变的患者的DRG-T2高于具有非经典突变的患者（P = 0.03）。此外，DRG-T2与体重呈负相关（ρ = -0.31，P = 0.005），与体重指数（BMI）也呈负相关（ρ = -0.32，P = 0.004），而与溶血神经酰胺三己糖苷（lyso-Gb3）水平或α-半乳糖苷酶A活性无关联。DRG-T2的评分者间信度和重测信度良好至优秀（组内相关系数分别为0.76和0.89）。：这些结果表明DRG-T2是神经元受累的标志物，使其成为FD疾病严重程度的强大且可靠的影像学生物标志物。然而，未来的研究需要将其变化与临床和组织学研究相关联。
