Abstract：
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neuroradiological differential diagnosis between these two conditions is difficult to achieve.
OBJECTIVE: To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease).
METHODS: In this prospective multicenter study, 3D-T1-weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters.
RESULTS: The pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut-off value equal to 1.67 of the pons-to-superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7.
CONCLUSIONS: Evaluation of the pons-to-superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI-ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. © 2024 International Parkinson and Movement Disorder Society.
OBJECTIVE: To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease).
METHODS: In this prospective multicenter study, 3D-T1-weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters.
RESULTS: The pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut-off value equal to 1.67 of the pons-to-superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7.
CONCLUSIONS: Evaluation of the pons-to-superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI-ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. © 2024 International Parkinson and Movement Disorder Society.
摘要：
背景：Charlevoix-Saguenay常染色体隐性遗传性痉挛性共济失调（ARSACS）和遗传性痉挛性截瘫7型（SPG7）代表了痉挛性共济失调（SPAX）最常见的基因型。迄今为止,他们的磁共振成像（MRI）特征仅被定性地描述，这两种情况之间的单纯神经放射学鉴别诊断是很难实现的。
目的：测试MRI测量在区分ARSACS和SPG7（作为常见SPAX疾病的指标）方面的表现。
方法：在这项前瞻性多中心研究中，59个ARSACS的3D-T1加权图像（35.4±10.3年，M/F=33/26）和78SPG7（54.8±10.3年，M/F=51/27)对PROSPAX联盟的患者进行了分析，加上30名对照(45.9±16.9岁，M/F=15/15)。评估了不同的线性和表面度量。进行了接收机工作特性分析，计算曲线下面积(AUC)和相应的诊断准确性参数。
结果：脑桥面积被证明是ARSACS患者唯一增加的指标（P=0.02）。与对照组相比，ARSACS和SPG7的其他不同指标减少（均为P≤0.005）。截止值等于1.67的桥与上vermis面积比被证明具有最高的AUC（0.98，诊断准确率93％，敏感性97%)区分ARSACS和SPG7。
结论：评估脑桥与上颌面积比可以将ARSACS与其他SPAX患者区分开来，如SPG7所示。因此，我们在此建议这个比率作为磁共振指数评估和识别有SACS突变的患者（MRI-ARSACS），一种能够识别ARSACS患者的新型诊断工具，可用于区分ARSACS和其他接受MRI的SPAX患者。©2024国际帕金森和运动障碍协会。
目的：测试MRI测量在区分ARSACS和SPG7（作为常见SPAX疾病的指标）方面的表现。
方法：在这项前瞻性多中心研究中，59个ARSACS的3D-T1加权图像（35.4±10.3年，M/F=33/26）和78SPG7（54.8±10.3年，M/F=51/27)对PROSPAX联盟的患者进行了分析，加上30名对照(45.9±16.9岁，M/F=15/15)。评估了不同的线性和表面度量。进行了接收机工作特性分析，计算曲线下面积(AUC)和相应的诊断准确性参数。
结果：脑桥面积被证明是ARSACS患者唯一增加的指标（P=0.02）。与对照组相比，ARSACS和SPG7的其他不同指标减少（均为P≤0.005）。截止值等于1.67的桥与上vermis面积比被证明具有最高的AUC（0.98，诊断准确率93％，敏感性97%)区分ARSACS和SPG7。
结论：评估脑桥与上颌面积比可以将ARSACS与其他SPAX患者区分开来，如SPG7所示。因此，我们在此建议这个比率作为磁共振指数评估和识别有SACS突变的患者（MRI-ARSACS），一种能够识别ARSACS患者的新型诊断工具，可用于区分ARSACS和其他接受MRI的SPAX患者。©2024国际帕金森和运动障碍协会。
