Domenico Montanaro, Marinela Vavla, Francesca Frijia, Alessio Coi, Alessandra Baratto, Rosa Pasquariello, Cristina Stefan, Andrea Martinuzzi
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MRS data were analyzed cross-sectionally (at T<sub>0</sub> and T<sub>1</sub>) and longitudinally (T<sub>0</sub> vs. T<sub>1</sub>).</p><p><strong>Results: </strong>Statistically significant data showed that T<sub>0</sub> mI/Cr in the pre-central areas of HSP patients was higher than in HC. In the left (L) pre-central area, NAA/Cr was significantly lower in HSP than in HC. In the right (R) pre-frontal area, NAA/Cr was significantly lower in HSP patients than in HC. HSP SPG4 subjects had significantly lower Cho/Cr concentrations in the L pre-central area compared to HC. Among the HSP subjects, non-SPG4 patients had significantly higher mI/Cr in the L pre-central area compared to SPG4 patients. In the R pre-frontal area, NAA/Cr was reduced, and ml/Cr was higher in non-SPG4 patients compared to SPG4 patients. Comparing \"pure\" and \"complex\" forms, NAA/Cr was higher in pHSP than in cHSP in the R pre-central and R pre-frontal areas. The longitudinal analysis, which involved fewer patients (<i>n</i> = 30), showed an increase in mI/Cr concentration in the L pre-frontal area among HSP subjects with respect to baseline. The patients had significantly higher SPRS scores at follow-up, with a significant positive correlation between SPRS scores and mI/Cr in the L pre-central area, while in bilateral pre-frontal areas, lower SPRS scores corresponded to higher NAA/Cr concentrations. To explore the discriminating power of MRS in correctly identifying HSP and controls, an inference tree methodology classified HSP subjects and controls with an overall accuracy of 73.9%, a sensitivity of 87.0%, and a specificity of 60.9%.</p><p><strong>Conclusion: </strong>This pilot study indicates that brain MRS is a valuable approach that could potentially serve as an objective biomarker in HSP.</p>","PeriodicalId":3,"journal":{"name":"ACS Applied Electronic Materials","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11347332/pdf/","citationCount":"0","resultStr":"{\"title\":\"Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.\",\"authors\":\"Domenico Montanaro, Marinela Vavla, Francesca Frijia, Alessio Coi, Alessandra Baratto, Rosa Pasquariello, Cristina Stefan, Andrea Martinuzzi\",\"doi\":\"10.3389/fnins.2024.1416093\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.</p><p><strong>Methods: </strong>A total of 46 patients affected by HSP, genetically and clinically evaluated and tested with SPRS scores, and 46 healthy controls (HC) matched by age and gender underwent a single-voxel Magnetic Resonance Spectroscopy sampling (MRS) of bilateral pre-central and pre-frontal regions. MRS data were analyzed cross-sectionally (at T<sub>0</sub> and T<sub>1</sub>) and longitudinally (T<sub>0</sub> vs. T<sub>1</sub>).</p><p><strong>Results: </strong>Statistically significant data showed that T<sub>0</sub> mI/Cr in the pre-central areas of HSP patients was higher than in HC. In the left (L) pre-central area, NAA/Cr was significantly lower in HSP than in HC. In the right (R) pre-frontal area, NAA/Cr was significantly lower in HSP patients than in HC. HSP SPG4 subjects had significantly lower Cho/Cr concentrations in the L pre-central area compared to HC. Among the HSP subjects, non-SPG4 patients had significantly higher mI/Cr in the L pre-central area compared to SPG4 patients. In the R pre-frontal area, NAA/Cr was reduced, and ml/Cr was higher in non-SPG4 patients compared to SPG4 patients. Comparing \\\"pure\\\" and \\\"complex\\\" forms, NAA/Cr was higher in pHSP than in cHSP in the R pre-central and R pre-frontal areas. The longitudinal analysis, which involved fewer patients (<i>n</i> = 30), showed an increase in mI/Cr concentration in the L pre-frontal area among HSP subjects with respect to baseline. The patients had significantly higher SPRS scores at follow-up, with a significant positive correlation between SPRS scores and mI/Cr in the L pre-central area, while in bilateral pre-frontal areas, lower SPRS scores corresponded to higher NAA/Cr concentrations. 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引用次数: 0
摘要
背景：遗传性痉挛性截瘫（HSP）是一种影响皮质脊髓束的遗传性神经退行性疾病。目前还没有与这种疾病相关的神经影像生物标志物：共有 46 名 HSP 患者接受了遗传学和临床评估，并接受了 SPRS 评分测试；46 名健康对照组（HC）接受了双侧中枢前区和额叶前区的单体素磁共振光谱采样（MRS）。对 MRS 数据进行了横向（T0 和 T1）和纵向（T0 与 T1）分析：具有统计学意义的数据显示，HSP 患者中枢前区的 T0 mI/Cr 高于 HC。在左侧（L）中枢前区，HSP 患者的 NAA/Cr 明显低于 HC 患者。在右侧（R）前额叶区域，HSP 患者的 NAA/Cr 明显低于 HC 患者。与 HC 相比，HSP SPG4 受试者 L 中枢前区的 Cho/Cr 浓度明显较低。在 HSP 受试者中，非 SPG4 患者 L 中枢前区的 mI/Cr 明显高于 SPG4 患者。在 R 前额叶区，非 SPG4 患者的 NAA/Cr 减少，ml/Cr 则高于 SPG4 患者。比较 "纯合 "和 "复合 "形式，在 R 前中央区和 R 前额叶区，pHSP 患者的 NAA/Cr 高于 cHSP 患者。参与纵向分析的患者人数较少（n = 30），但分析结果显示，与基线相比，HSP 受试者 L 额叶前区的 mI/Cr 浓度有所增加。患者随访时的SPRS评分明显较高，SPRS评分与L前中央区的mI/Cr呈显著正相关，而在双侧额前区，较低的SPRS评分对应较高的NAA/Cr浓度。为了探索 MRS 在正确识别 HSP 和对照组方面的鉴别力，采用推理树方法对 HSP 受试者和对照组进行了分类，总体准确率为 73.9%，灵敏度为 87.0%，特异性为 60.9%：这项试验性研究表明，脑部 MRS 是一种有价值的方法，有可能成为 HSP 的客观生物标志物。
Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.
Background: Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.
Methods: A total of 46 patients affected by HSP, genetically and clinically evaluated and tested with SPRS scores, and 46 healthy controls (HC) matched by age and gender underwent a single-voxel Magnetic Resonance Spectroscopy sampling (MRS) of bilateral pre-central and pre-frontal regions. MRS data were analyzed cross-sectionally (at T0 and T1) and longitudinally (T0 vs. T1).
Results: Statistically significant data showed that T0 mI/Cr in the pre-central areas of HSP patients was higher than in HC. In the left (L) pre-central area, NAA/Cr was significantly lower in HSP than in HC. In the right (R) pre-frontal area, NAA/Cr was significantly lower in HSP patients than in HC. HSP SPG4 subjects had significantly lower Cho/Cr concentrations in the L pre-central area compared to HC. Among the HSP subjects, non-SPG4 patients had significantly higher mI/Cr in the L pre-central area compared to SPG4 patients. In the R pre-frontal area, NAA/Cr was reduced, and ml/Cr was higher in non-SPG4 patients compared to SPG4 patients. Comparing "pure" and "complex" forms, NAA/Cr was higher in pHSP than in cHSP in the R pre-central and R pre-frontal areas. The longitudinal analysis, which involved fewer patients (n = 30), showed an increase in mI/Cr concentration in the L pre-frontal area among HSP subjects with respect to baseline. The patients had significantly higher SPRS scores at follow-up, with a significant positive correlation between SPRS scores and mI/Cr in the L pre-central area, while in bilateral pre-frontal areas, lower SPRS scores corresponded to higher NAA/Cr concentrations. To explore the discriminating power of MRS in correctly identifying HSP and controls, an inference tree methodology classified HSP subjects and controls with an overall accuracy of 73.9%, a sensitivity of 87.0%, and a specificity of 60.9%.
Conclusion: This pilot study indicates that brain MRS is a valuable approach that could potentially serve as an objective biomarker in HSP.
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