脊髓小脑性共济失调3型/Machado-Joseph病患者小脑的磁共振波谱分析

摘要

Objective To evaluate the metabolite pattern and the severity in patients with spinocerebellar ataxia type 3/ Machado-Joseph disease (SCA3/MJD) by 1H magnetic resonance spectroscopy (1H-MRS) on different cerebellar regions, including cerebellar vermis, cerebellar peduncles, cerebellar cortex, and dentatum. Methods Thirty-six SCA3/MJD patients, and 27 sex,age-matched healthy controls were scanned with 1H-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 MJDI 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. Results The ratio of NAA/Cr in SCA3/MJD patients showed a significant reduction in the cerebellar cortex, dentatum, eerebellar 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 1H-MRS and duration of the disease, age of onset, expanded CAG and SARA score in SCA3/MJD patients.Conclusion 1H-MRS, which shows the neural metabolic changes in the cerebella of SCA3/MJD patients, provides useful information about the severity of SCA3/MJD.%目的:通过研究脊髓小脑共济失调3型(SCA3/MJD)患者小脑蚓部、桥臂、小脑皮质、齿状核的氢质子磁共振波谱(1H-MRS)的特点,探讨1H-MRS评估SCA3型疾病严重程度的价值.方法:对36例SCA3/MJD患者与27例性别、年龄与之匹配的健康对照进行单体素1H-MRS测定,比较2组间小脑上述各脑区N-乙酰天门冬氨酸(NAA)/肌酸(Cr),胆碱(Cho)/Cr,NAA/Cho比值的差别;同时对34例患者进行MJD1基因中(CAG)n重复次数的测定,应用共济失调等级量表(SARA)对其进行评分,并结合上述各脑区代谢物比值进行相关性分析.结果:SCA3/MJD患者的SARA评分与其病程、发病年龄、CAG重复次数呈正相关,与发病年龄呈负相关;SCA3/MJD患者上述各脑区NAA/Cr值及齿状核、蚓部NAA/Cho值较正常对照明显降低(P<0.01);SCA3/MJD患者小脑各区的1H-MRS与病程、发病年龄、CAG重复次数、SARA 评分存在相关性.结论:1H-MRS技术可以检测SCA3/MJD患者小脑的神经代谢改变,且可较好地反应SCA3/MJD的疾病严重程度.