Lei Lifang, Liao Yunjie, Liao Weihua, Zhou Jie, Yuan Yi, Wang Junling, Jiang Hong, Shen Lu, Tang Beisha
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Jun;36(6):511-9. doi: 10.3969/j.issn.1672-7347.2011.06.007.
To evaluate the metabolite pattern and the severity in patients with spinocerebellar ataxia type 3/ Machado-Joseph disease (SCA3/MJD) by (1)H magnetic resonance spectroscopy ((1)H-MRS) on different cerebellar regions, including cerebellar vermis, cerebellar peduncles, cerebellar cortex, and dentatum.
Thirty-six SCA3/MJD patients, and 27 sex, age-matched healthy controls were scanned with (1)H-MRS for N-acetylaspartate (NAA), choline (Cho) and creatine (Cr). We made cerebellar vermis, cerebellar peduncles, cerebellar cortex, and dentatum as the region of interests (ROI), and finally got access to NAA/Cr, Cho/Cr, and NAA/Cho ratios. We also examined the CAG repeat numbers of MJD1 gene, scored the 36 patients by the scale for the assessment and rating of ataxia (SARA), analyzed the differences in ratios between SCA3/MJD patients and the control group, and explored whether relevance existed between these ratios and duration of the disease, age of onset, CAG repeat times, and SARA scores respectively.
The ratio of NAA/Cr in SCA3/MJD patients showed a significant reduction in the cerebellar cortex, dentatum, cerebellar vermis and medipeduncle (P<0.01) compared with the controls. The ratio of NAA/Cho also showed significant reduction in the dentatum and cerebellar vermis (P<0.01). A number of correlations were found between the metabolite ratios of (1)H-MRS and duration of the disease, age of onset, expanded CAG and SARA score in SCA3/MJD patients.
(1)H-MRS, which shows the neural metabolic changes in the cerebella of SCA3/MJD patients, provides useful information about the severity of SCA3/MJD.
通过对不同小脑区域，包括小脑蚓部、小脑脚、小脑皮质和齿状核进行氢磁共振波谱（¹H-MRS）分析，评估3型脊髓小脑共济失调/马查多-约瑟夫病（SCA3/MJD）患者的代谢物模式及严重程度。
对36例SCA3/MJD患者及27例性别、年龄匹配的健康对照者进行¹H-MRS扫描，检测N-乙酰天门冬氨酸（NAA）、胆碱（Cho）和肌酸（Cr）。将小脑蚓部、小脑脚、小脑皮质和齿状核作为感兴趣区（ROI），最终获得NAA/Cr、Cho/Cr和NAA/Cho比值。我们还检测了MJD1基因的CAG重复次数，采用共济失调评估与评分量表（SARA）对36例患者进行评分，分析SCA3/MJD患者与对照组之间比值的差异，并分别探讨这些比值与疾病病程、发病年龄、CAG重复次数及SARA评分之间是否存在相关性。
与对照组相比，SCA3/MJD患者小脑皮质、齿状核、小脑蚓部和小脑中脚的NAA/Cr比值显著降低（P<0.01）。齿状核和小脑蚓部的NAA/Cho比值也显著降低（P<0.0）。在SCA3/MJD患者中，¹H-MRS的代谢物比值与疾病病程、发病年龄、扩展的CAG及SARA评分之间存在多种相关性。
¹H-MRS显示了SCA3/MJD患者小脑的神经代谢变化，为SCA3/MJD的严重程度提供了有用信息。
