Gerhard S. Drenthen, Dennis Kool, Amir Far, Jaymin Upadhyay, David E. J. Linden, Raquel van Gool, Celine P. Goijen, Ingemar S. J. Merkies, Walter H. Backes, Catharina G. Faber, Jacobus F. A. Jansen, Janneke G. J. Hoeijmakers
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Therefore, potential alterations in the structural brain network of idiopathic SFN and SFN-SCN9A were explored.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>Ten SFN-SCN9A patients, 20 idiopathic SFN patients, and 20 controls were included. All participants underwent 3-Tesla diffusion MRI (66 gradient directions, <i>b</i>-value = 1200 s/mm<sup>2</sup>), and the brain network was quantified using nodal importance, which describes the influence of a group of regions on the whole network.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>The nodal importance of pain-associated regions (postcentral gyrus, insular cortex, anterior cingulate cortex, and thalamus) was increased in SFN-SCN9A patients compared to controls (<i>β</i> = 0.43, <i>p</i> = 0.02) and idiopathic SFN patients (<i>β</i> = 0.43, <i>p</i> = 0.02). Moreover, higher self-reported pain was associated with higher nodal importance of pain-associated regions in the SFN-SCN9A group (<i>r</i> = 0.67, <i>p</i> = 0.03), while this effect was not observed in the idiopathic SFN patients (<i>r</i> = −0.22, <i>p</i> = 0.34). As self-reported pain did not differ between the SFN groups, it is likely specific to the SCN9A-mutation and not to differences in pain intensity.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>Combined, these results suggest the potential involvement of a distinct structural pathway related to pain processing in SFN-SCN9A.</p>\n </section>\n </div>","PeriodicalId":16399,"journal":{"name":"Journal of Neuroimaging","volume":"35 6","pages":""},"PeriodicalIF":2.5000,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12604079/pdf/","citationCount":"0","resultStr":"{\"title\":\"Diffusion Tensor Imaging Reveals Altered Centrality of Pain-Related Regions in SCN9A-Associated Small Fiber Neuropathy\",\"authors\":\"Gerhard S. Drenthen, Dennis Kool, Amir Far, Jaymin Upadhyay, David E. J. Linden, Raquel van Gool, Celine P. Goijen, Ingemar S. J. 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引用次数: 0
摘要
背景和目的：小纤维神经病（SFN）是一种与慢性疼痛相关的神经性疾病。虽然大多数SFN病例是特发性的，但SFN也可能有遗传原因。如罕见的SCN9A基因突变可损害NaV1.7钠通道，导致背根神经节神经元高兴奋性，引起SFN。尽管慢性疼痛可能会引起大脑的变化，但scn9a相关的SFN （SFN- scn9a）的特异性脑结构改变仍然没有充分的特征。因此，我们探索特发性SFN和SFN- scn9a的脑结构网络的潜在改变。方法：选取SFN- scn9a患者10例，特发性SFN患者20例，对照组20例。所有参与者都进行了3-Tesla扩散MRI(66个梯度方向，b值= 1200 s/mm2)，并使用节点重要性来量化脑网络，节点重要性描述了一组区域对整个网络的影响。结果：与对照组（β = 0.43, p = 0.02）和特发性SFN患者（β = 0.43, p = 0.02）相比，SFN- scn9a患者疼痛相关区域（中央后回、岛叶皮质、前扣带皮层和丘脑）的结重要性增加。此外，在SFN- scn9a组中，较高的自我报告疼痛与较高的疼痛相关区域的淋巴结重要性相关（r = 0.67, p = 0.03），而在特发性SFN患者中没有观察到这种影响（r = -0.22, p = 0.34）。由于自我报告的疼痛在SFN组之间没有差异，这可能是scn9a突变所特有的，而不是疼痛强度的差异。结论：综上所述，这些结果提示SFN-SCN9A可能参与了一个与疼痛加工相关的独特结构通路。
Diffusion Tensor Imaging Reveals Altered Centrality of Pain-Related Regions in SCN9A-Associated Small Fiber Neuropathy
Background and Purpose
Small fiber neuropathy (SFN) is a neuropathic disorder that is associated with chronic pain. While most SFN cases are idiopathic, SFN can also have hereditary causes. For example, rare SCN9A gene mutations can impair the NaV1.7 sodium channel, which leads to dorsal root ganglion neuron hyperexcitability, causing SFN. Although chronic pain may induce cerebral changes, the specific structural brain alterations in SCN9A-associated SFN (SFN-SCN9A) remain insufficiently characterized. Therefore, potential alterations in the structural brain network of idiopathic SFN and SFN-SCN9A were explored.
Methods
Ten SFN-SCN9A patients, 20 idiopathic SFN patients, and 20 controls were included. All participants underwent 3-Tesla diffusion MRI (66 gradient directions, b-value = 1200 s/mm2), and the brain network was quantified using nodal importance, which describes the influence of a group of regions on the whole network.
Results
The nodal importance of pain-associated regions (postcentral gyrus, insular cortex, anterior cingulate cortex, and thalamus) was increased in SFN-SCN9A patients compared to controls (β = 0.43, p = 0.02) and idiopathic SFN patients (β = 0.43, p = 0.02). Moreover, higher self-reported pain was associated with higher nodal importance of pain-associated regions in the SFN-SCN9A group (r = 0.67, p = 0.03), while this effect was not observed in the idiopathic SFN patients (r = −0.22, p = 0.34). As self-reported pain did not differ between the SFN groups, it is likely specific to the SCN9A-mutation and not to differences in pain intensity.
Conclusion
Combined, these results suggest the potential involvement of a distinct structural pathway related to pain processing in SFN-SCN9A.
期刊介绍：
Start reading the Journal of Neuroimaging to learn the latest neurological imaging techniques. The peer-reviewed research is written in a practical clinical context, giving you the information you need on:
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