Harms L, Meierkord H, Timm G, Pfeiffer L, Ludolph A C
Department of Neurology, Humboldt University, Berlin, Germany.
J Neurol Neurosurg Psychiatry. 1997 Jan;62(1):27-30. doi: 10.1136/jnnp.62.1.27.
Both the effect of the mutation and the pathogenesis of Huntington's disease are unknown and a lack of biological markers for the natural history of the disease impedes the evaluation of novel therapeutic approaches.
Proton magnetic resonance spectroscopy was carried out on a frontal region of the cortex in 17 patients with clinically overt Huntington's disease and four asymptomatic gene carriers.
Eight of 17 (47%) clinically affected patients with Huntington's disease and each of the asymptomatic carriers had lactate peaks in the frontal cortex which were not present in controls. The N-acetyl-aspartate/choline (NAA/Ch) ratio was significantly reduced in the symptomatic patients indicating the presence of neuronal loss. The reduction was related to the clinical severity of the disease and was absent in the asymptomatic carriers.
The finding of lactate peaks supports the hypothesis that disturbed cerebral energy metabolism contributes to the pathogenesis of Huntington's disease.
亨廷顿舞蹈症的突变效应和发病机制均不明确，且缺乏针对该疾病自然史的生物标志物，这阻碍了对新型治疗方法的评估。
对17例临床症状明显的亨廷顿舞蹈症患者及4名无症状基因携带者的额叶皮质区域进行了质子磁共振波谱分析。
17例临床确诊的亨廷顿舞蹈症患者中有8例（47%）以及所有无症状携带者的额叶皮质均出现了乳酸峰，而对照组未出现。有症状患者的N-乙酰天门冬氨酸/胆碱（NAA/Ch）比值显著降低，表明存在神经元丢失。这种降低与疾病的临床严重程度相关，无症状携带者中则未出现。
乳酸峰的发现支持了大脑能量代谢紊乱参与亨廷顿舞蹈症发病机制的假说。
