Magnetic resonance spectroscopy (MRS) is applied to investigate the neurochemical profiles of degenerative hereditary ataxias. This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date. From each study, changes in N-acetyl aspartate (NAA), choline-containing compounds (Cho) and myo-Inositol (mI) ratios to total creatine (Cr) were calculated for groups of patients (1499 patients in total: SCA1 = 223, SCA2 = 298, SCA3 = 711, SCA6 = 165, and FA = 102) relative to their own control group, mostly in cerebellum and pons. SCA1, 2, 3, 6, and FA patients showed overall decreased NAA/Cr compared to controls. Decreased Cho/Cr was visible in SCA1, 2, and 3 and elevated mI/Cr in SCA2 patients in cerebellum. In SCA6 and FA Cho/Cr and mI/Cr did not differ with respect to controls but SCA6 patients indicated higher Cho/Cr compared to SCA1 patients in cerebellum. SCA2 subjects showed the lowest NAA/Cr and Cho/Cr in cerebellum and the highest mI/Cr compared to controls and other genotypes, and therefore the most promising results for a potential biomarker.

中文翻译：

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遗传性共济失调中的神经化学特征：磁共振波谱研究的荟萃分析。

磁共振波谱（MRS）用于研究变性遗传性共济失调的神经化学特征。这项荟萃分析可定量评估和重新评估迄今为止可利用的脊髓小脑共济失调（SCA）和腓特烈共济失调（FA）中的MRS发现。从每项研究中，计算出各组患者的N-乙酰天门冬氨酸（NAA），含胆碱的化合物（Cho）和肌醇（mI）与总肌酸（Cr）之比的变化（总共1499例患者：SCA1 = 223） ，SCA2 = 298，SCA3 = 711，SCA6 = 165和FA = 102）相对于他们自己的对照组，主要是在小脑和脑桥中。与对照组相比，SCA1、2、3、6和FA患者的NAA / Cr总体降低。在小脑的SCA1、2和3中可见Cho / Cr降低，而在SCA2患者中mI / Cr升高。在SCA6和FA中，Cho / Cr和mI / Cr与对照组无差异，但与小脑SCA1患者相比，SCA6患者显示出较高的Cho / Cr。与对照组和其他基因型相比，SCA2受试者的小脑NAA / Cr和Cho / Cr最低，而mI / Cr最高，因此对于潜在的生物标志物而言，最有希望的结果。