Sánchez-Pernaute R, García-Segura J M, del Barrio Alba A, Viaño J, de Yébenes J G
Department of Neurology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
Neurology. 1999 Sep 11;53(4):806-12. doi: 10.1212/wnl.53.4.806.
To study the clinical significance of metabolic alterations as measured in vivo with proton MRS in the striatum of patients with Huntington's disease (HD).
Localized, single-voxel MRS was performed on the basal ganglia of 10 HD patients (4 presymptomatic gene carriers and 6 akinetic patients) and 5 age-matched healthy individuals. Metabolite quantification was performed by referring the areas of the respective spectral peaks to that of water in the analyzed voxel. The spectroscopic findings were correlated with motor and cognitive performance in several specific tests and with the length of the CAG repeat expansion normalized for age.
N-acetylaspartate (NAA) and creatine were reduced markedly in both groups of patients, particularly in the advanced group (approximately 60%), but the decrease was also significant in presymptomatic patients (approximately 30%) whose motor and cognitive performances were within the normal range. Both metabolites correlated highly with the motor score of the Unified Huntington's Disease Rating Scale and with computed measurements of saccadic and tapping speed. Creatine reduction was also well correlated with performance in cognitive timed tasks and with the length of CAG expansion (r = -0.81).
The creatine signal appears to be an interesting marker for progression in HD and could be useful in assessing therapeutic outcome, particularly during the initial stages when most clinical indices are still within the normal range.
研究采用质子磁共振波谱（MRS）在体测量亨廷顿舞蹈病（HD）患者纹状体代谢改变的临床意义。
对10例HD患者（4例症状前基因携带者和6例运动不能患者）及5名年龄匹配的健康个体的基底神经节进行定位单体素MRS检查。通过将各光谱峰面积与分析体素内水的面积进行参照来进行代谢物定量分析。将光谱学结果与多项特定测试中的运动和认知表现以及根据年龄标准化的CAG重复扩增长度进行关联分析。
两组患者的N-乙酰天门冬氨酸（NAA）和肌酸均显著降低，尤其是晚期组（约60%），但在症状前患者中降低也很显著（约30%），而这些患者的运动和认知表现均在正常范围内。这两种代谢物均与统一亨廷顿舞蹈病评定量表的运动评分以及扫视和敲击速度的计算测量值高度相关。肌酸降低也与认知定时任务的表现以及CAG扩增长度密切相关（r = -0.81）。
肌酸信号似乎是HD病情进展的一个有趣标志物，可能有助于评估治疗效果，尤其是在大多数临床指标仍在正常范围内的初始阶段。
