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  • Title: [Value of 1H-MRS on SCA3/MJD diagnosis and clinical course].
    Author: Xing W, Liao X, Guan T, Xie F, Shen L, Liao W, Wang X.
    Journal: Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2017 Mar 28; 42(3):291-297. PubMed ID: 28364102.
    Abstract:
    To investigate the value of proton magnetic resonance spectroscopy (1H-MRS) on the diagnosis of SCA3/MJD, and to calculate the correlation between 1H-MRS ratio and the clinical score.
 Methods: Sixteen patients with SCA3/MJD and 19 healthy volunteers were scanned with 1H-MRS. The data of N-acetyl aspartate, creatine, choline-containing compounds, myoinositol, NAA/Cr, Cho/Cr, and mI/Cr ratio were collected, which were grouped for comparative study. The onset patients with SCA3/MJD were evaluated with the International Cooperative Ataxia Rating Scale and Scale for the Assessment and Rating of Ataxia, the correlation between NAA/Cr, Cho/Cr or mI/Cr ratio and the clinical score was calculated.
 Results: The NAA/Cr in the pons and cerebellar dentate nucleus from the onset patients with SCA3/MJD was significantly reduced compared to that in the normal control group. The NAA/Cr in the cerebellar dentate nucleus of onset patients with SCA3/MJD was obviously correlated with ICARS.
 Conclusion: SCA3/MJD lesions are mainly located in the cerebellum and brainstem, where gray and white mater are also involved. The cerebellar dentate nucleus may be the earliest involved area. There is a correlation between the ICARS and the cerebellar lesion degree. The ICARS reflects the severity of clinical manifestations. 1H-MRS is useful in the diagnosis of SCA3/MJD. 目的：探讨氢质子波谱(proton magnetic resonance spectroscopy，1H-MRS)在脊髓小脑型共济失调3型/马查多–约瑟夫病(hereditary spinocerebellar ataxias 3 and Machado-Joseph，SCA3/MJD)诊断中的价值，同时探讨其与临床病程评分之间的联系。方法：SCA3/MJD起病患者、SCA3/MJD未起病患者及年龄匹配健康志愿者进行1H-MRS检查，经数据后处理获得N–乙酰天门冬氨酸(N-acetylaspartate，NAA)，肌酸(creatine，Cr)，胆碱(choline-containing compounds，Cho)，肌醇(myo-inositol，mI)值及NAA/Cr，Cho/Cr，mI/Cr比值。将以上数据进行对比研究；同时对于SCA3/MJD起病患者进行国际协作共济失调评估量表(International Cooperative Ataxia Rating Scale，ICARS)及共济失调等级量表(Scale for the Assessment and Rating of Ataxia，SARA)评估，计算NAA/Cr，Cho/Cr，mI/Cr比值与临床评分之间的相关性。
结果：SCA3/MJD起病患者在桥脑及齿状核的NAA/Cr值较正常对照组明显减低。SCA3/MJD起病患者小脑齿状核NAA/Cr值与ICARS评分有明显相关性。结论：SCA3/MJD的病变主要位于小脑及脑干，ICARS评分与小脑病变的程度有相关性，能较好地反映临床表现的轻重程度。1H-MRS 对于SCA3/MJD 的诊断有一定的应用前景。.
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