Dupuis M, Brucher J M, Gonsette R
Rev Neurol (Paris). 1983;139(11):643-9.
A 79 years-old man suffered gait disturbance for more than ten years. During the last year the gait worsened. Twenty days after having developed a right hemiparesis, he died from cardiorespiratory failure. Neurological signs were characterized by cogwheel rigidity, distal paresis and amyotrophy of the legs. E.M.G. demonstrated a denervation; ulnar conduction velocity was 38 m/s. The sural nerve biopsy showed a loss of myelinated fibres and no onion-bulb-like formations. A sister (72 years) and two nephews (51 and 39 years) also suffer gait disturbance. The E.M.G.'s demonstrate denervation of the legs. The amplitudes of the motor and sensory nerves are reduced and conduction velocities range between 39 and 59 m/s. Pathologic examination of the propositus showed recent left frontal subcortical infarction, partial neuronal depopulation of the substantia nigra and Lewy inclusions. Microscopic examination of the spinal cord showed integrity of the posterior columns, anterior and posterior spinal roots, cauda equina, and of a thoracic posterior root ganglion. The anterior horns showed a mild gliosis and a slight neuronal depopulation with a few pale or atrophic neurons and very rare neuronophagias. This is believed to be the first autopsy report of a dominant sensory motor neuropathy of the neuronal type. The relative integrity of the spinal cord suggests that the peripheral motor and sensory neurons are affected to the greatest degree at their distal extremity.
一名79岁男性患步态障碍十余年。在过去一年中，步态恶化。出现右侧偏瘫20天后，他死于心肺功能衰竭。神经学体征表现为齿轮样强直、远端轻瘫和腿部肌萎缩。肌电图显示失神经支配；尺神经传导速度为38米/秒。腓肠神经活检显示有髓纤维丢失，无洋葱球样结构。患者的一个妹妹（72岁）和两个侄子（51岁和39岁）也患有步态障碍。肌电图显示腿部失神经支配。运动和感觉神经的波幅降低，传导速度在39至59米/秒之间。对先证者的病理检查显示近期左侧额叶皮质下梗死、黑质部分神经元缺失和路易小体。脊髓显微镜检查显示后柱、脊髓前后根、马尾以及一个胸后根神经节完整。前角显示轻度胶质细胞增生和轻微神经元缺失，有一些苍白或萎缩的神经元，神经元吞噬现象极少。据信这是神经元型显性感觉运动神经病的首例尸检报告。脊髓的相对完整性表明，周围运动和感觉神经元在其远端受到的影响最大。
