Taylor-Robinson S D, Weeks R A, Bryant D J, Sargentoni J, Marcus C D, Harding A E, Brooks D J
Robert Steiner MR Unit, Royal Postgraduate Medical School, Hammersmith Hospital, London, England, UK.
Mov Disord. 1996 Mar;11(2):167-73. doi: 10.1002/mds.870110209.
The gene responsible for Huntington's disease (HD) has been located, but its action and the pathophysiology of HD remain unclear. Glutamate excitotoxicity may contribute to the striatal neurodegeneration seen in HD. We used localised proton magnetic resonance spectroscopy (MRS) of the brain to investigate five patients with early HD, one symptom-free gene carrier, and 14 healthy volunteers. Peak area ratios of choline-containing compounds (Cho), glutamine and glutamate (Glx), and N-acetyl moieties including N-acetylaspartate (NAx), relative to creatine (Cr), were calculated. Spectra were analysed from the striatum and the occipital and the temporal cortex. The HD patients all had an elevated Glx/Cr in spectra localised to the striatum, compared with healthy controls, and one patient also had an elevated thalamic Glx/Cr. The mean Glx/Cr was unaltered in the cortical spectra of HD patients. The asymptomatic gene carrier displayed no spectral abnormalities. Our findings suggest disordered striatal glutamate metabolism and may support the theory of glutamate excitotoxicity in HD.
导致亨廷顿舞蹈症（HD）的基因已被定位，但其作用及HD的病理生理学仍不清楚。谷氨酸兴奋性毒性可能导致HD中出现的纹状体神经变性。我们利用脑部局部质子磁共振波谱（MRS）对5例早期HD患者、1例无症状基因携带者及14名健康志愿者进行了研究。计算了含胆碱化合物（Cho）、谷氨酰胺和谷氨酸（Glx）以及包括N-乙酰天门冬氨酸（NAx）在内的N-乙酰部分相对于肌酸（Cr）的峰面积比。对纹状体、枕叶和颞叶皮质的波谱进行了分析。与健康对照相比，HD患者纹状体波谱中的Glx/Cr均升高，1例患者丘脑Glx/Cr也升高。HD患者皮质波谱中的平均Glx/Cr未改变。无症状基因携带者未显示波谱异常。我们的研究结果提示纹状体谷氨酸代谢紊乱，可能支持HD中谷氨酸兴奋性毒性的理论。
