Presymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS
Presymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS
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DOI：
10.1212/wnl.0b013e318231526a
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发表时间：
2011-10-01
期刊：
影响因子：
9.9
通讯作者：
Benatar, M.
中科院分区：
文献类型：
--
作者：
Carew, J. D.;Nair, G.;Benatar, M.
目的：据推测，肌萎缩性侧索硬化症（ALS）的特点是一个预先表现的时期，在此期间，神经变性先于临床表现的出现。磁共振波谱（MRS）被用于测量具有SOD 1基因突变（SOD 1+）的无症状个体的颈椎中神经代谢物的比率，并将其神经代谢比率与ALS患者和健康对照进行比较。（1）对24例症状前SOD_（1+）志愿者、29例健康对照者、和23名ALS患者。所有症状前受试者均无疾病症状，用力肺活量正常，肌电图检查正常。测定胆碱（Cho）、肌酸（Cr）、肌醇（Myo）和N-乙酰丙酸（NAA）的相对浓度。SOD 1+受试者的NAA/Cr和NAA/Myo比值均降低与对照组相比，ALS患者（39.7%，p = 0.001和18.0%，p = 0.02）和ALS患者（41.2%，p < 0.001和24.0%，p = 0.01）。与对照组相比，SOD 1+受试者的Myo/Cr降低（10.3%，p = 0.02），但ALS患者与对照组之间无差异。相比之下，NAA/Cho是减少ALS患者（24.0%，p = 0.002），但不是在症状前SOD 1+科目相比controls.Conclusions：在颈脊髓神经代谢物的比例变化是明显的症状和临床或肌电图变化在这一人群中观察到的变化在症状前SOD 1+个人在临床上明显的ALS患者。这表明神经代谢改变发生在疾病过程的早期。神经病学（R）2011;77：1370-1375
Objectives: It has been speculated that amyotrophic lateral sclerosis (ALS) is characterized by a premanifest period during which neurodegeneration precedes the appearance of clinical manifestations. Magnetic resonance spectroscopy (MRS) was used to measure rations of neurometabolites in the cervical spine of asymptomatic individuals with a mutation in the SOD1 gene (SOD1+) and compare their neurometabolic ratios to patients with ALS and healthy controls.Methods: A cross-sectional study of (1)H-MRS of the cervical spine was performed on 24 presymptomatic SOD1+ volunteers, 29 healthy controls, and 23 patients with ALS. All presymptomatic subjects had no symptoms of disease, normal forced vital capacity, and normal electromyographic examination. Relative concentrations of choline (Cho), creatine (Cr), myo-inositol (Myo), and N-acetylasparate (NAA) were determined.Results: NAA/Cr and NAA/Myo rations are reduced in both SOD1+ subjects (39.7%, p = 0.001 and 18.0%, p = 0.02) and patients with ALS (41.2%, p < 0.001 and 24.0%, p = 0.01) compared to controls. Myo/Cr is reduced (10.3%, p = 0.02) in SOD1+ subjects compared to controls, but no difference was found between patients with ALS and controls. By contrast, NAA/Cho is reduced in patients with ALS (24.0%, p = 0.002), but not in presymptomatic SOD1+ subjects compared to controls.Conclusions: Changes in neurometabolite ratios in the cervical spinal cord are evident in presymptomatic SOD1+ individuals in advance of symptoms and clinical or electromyographic changes in this population resemble changes observed in patients with clinically apparent ALS. This suggest that neurometabolic changed occur early in the course of the disease process. Neurology (R) 2011;77:1370-1375