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本文报导两例患有棘红细胞增多症、运动神经元疾病、抽搐及帕金森氏症的病例,是父母有血源关系的两兄弟。例_113岁开始有跛行,30岁双上肢亦无力,语言含糊不清。36岁时喉部不自主地发出各种声音,不随意地咀嚼、咬舌。随后的五年内口面部运动及发声渐消失,右手出现震颤并扩展到全身,振幅随之加大,伴有进行性强直、运动徐缓、模仿动作减少及构音困难。CK348U/ml(正常35～200),EMG显示四肢远端及面、舌肌肉有去神经表现,神经传导正常,左腓肠肌活检发现有失神经性肌萎缩。病情进行性发展至40岁时被限制在轮椅上。46岁时神经系统检查,除有垂直性凝视麻痹、双上肢肌张力呈齿轮样增高外,还有对称性肌萎缩、肌束震颤、肌无力。两手有以静止状态出现为主的震颤,两足
This article reports two cases of patients with acanthocytosis, motor neuron disease, convulsions, and Parkinson’s disease, two siblings who have a blood relationship with their parents. Cases _11 liar limp, 30-year-old upper extremity also weakness, vague language. 36-year-old laryngeal involuntary voice, not chewing, biting tongue. During the following five years, facial and facial movements and vocalizations gradually disappeared. The right hand appeared tremor and extended to the whole body. The amplitudes increased with progressive rigidity, bradykinesia, reduction in mimicry and dysarthria. CK348U / ml (normal 35 ~ 200), EMG showed distal and facial limbs, tongue muscle denervation performance, normal nerve conduction, left gastrocnemius muscle biopsy was found to have neuromuscular atrophy. The progression of the disease to the age of 40 was limited to the wheelchair. 46-year-old nervous system examination, in addition to vertical staring paralysis, double upper extremity muscle tension was gear-like, there are symmetrical muscle atrophy, fasciculation, muscle weakness. Both hands have to appear mainly static tremor, two feet