Bonelli R M, Kenner L, Gruber A, Reisecker F, Költringer P
Department of Neurology and Psychiatry, Hospital BHB Eggenberg, Graz, Austria.
Med Hypotheses. 2001 Oct;57(4):491-6. doi: 10.1054/mehy.2001.1372.
Advances in neuroradiological and neurosurgical techniques have lead to a growing interest in functional neurosurgical interventions for medically intractable movement disorders. The majority of these procedures are performed in patients with hypokinetic movement disorders, especially Parkinson's disease. However, relatively few interventions were done in hyperkinetic disorders such as Huntington's disease (HD), mainly owing to the lack of an adequate target nucleus. We have recently described the case of a reversible chorea in a genetically confirmed HD patient. We subsequently identified a marked bilateral degeneration of the substantia nigra as the probable reason for choreatic cessation. We therefore suggest that primary striatal atrophy causing hyperkinesia and secondary substantia nigra atrophy favouring hypokinesia were balanced in this patient, thus resulting in a close-to-physiologic GABAergic basal ganglia output. We postulate that deep brain stimulation of the substantia nigra pars compacta may ameliorate hyperkinesia in choreatic movement disorders, thus representing the first effective therapy in Huntington's chorea. Several lines of evidence in recent neurophysiological research support our hypothesis and are discussed below.
神经放射学和神经外科技术的进步使得人们对针对药物难治性运动障碍的功能性神经外科干预越来越感兴趣。这些手术大多数是针对运动减少性运动障碍患者进行的，尤其是帕金森病患者。然而，针对诸如亨廷顿舞蹈病（HD）等运动增多性疾病的干预相对较少，主要是由于缺乏合适的靶点核团。我们最近报道了一例基因确诊的HD患者出现可逆性舞蹈症的病例。我们随后发现黑质明显的双侧变性是舞蹈症停止的可能原因。因此我们认为，该患者中导致运动增多的原发性纹状体萎缩和有利于运动减少的继发性黑质萎缩达到了平衡，从而产生了接近生理状态的GABA能基底神经节输出。我们推测，对黑质致密部进行深部脑刺激可能会改善舞蹈症运动障碍中的运动增多，从而成为亨廷顿舞蹈病的首个有效治疗方法。近期神经生理学研究的几条证据支持了我们的假设，将在下文进行讨论。
