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首页> 外文会议>International Congress of Neuropathology >An autopsy case of familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase
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An autopsy case of familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase

机译：Cu / Zn超氧化物歧化酶的Gly93ser突变具有尸体肌植物侧硬化的尸检案例

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We describe a 39-year-old Japanese woman with familial amyotrophic lateral sclerosis (FALS) in whom we identified a missense mutation (Gly93->Ser) in exon 4 of the Cu/Zn superoxidase dismutase-1 (SOD1) gene in which no pathological data have been available. The patient's aunt died of ALS at age 67. Our patient developed muscle weakness in the legs from age 23. At age 24, she also experienced weakness in the arms. At age 30, she exhibited hoarseness and dysphagia. She became bedridden from the age of 36 years. At age 38, she developed difficulty in respiration. Sixteen years after onset of the disease, at the age of 39 years, the patient died of respiratory failure. She had no clear upper motor neuron involvement. Neuropatho-logical examinations showed neuronal loss in Clarke's nucleus (Fig. 1), fiber loss in the spinocerebellar tract and the posterior column (Fig. 2), and degeneration of the dentatorubral system (Figs. 3 and 4), in addition to the degeneration of the upper and lower motor neuron systems (Fig. 5). Marked atrophy and myelin pallor were present in the superior cerebellar peduncle (Fig. 6). Our case showed severe loss of anterior horn cells, but mild changes in the corticospinal tract. However, the patient has no Lewy body-like hyaline inclusions (LBHIs), which are characteristic features of mutant SOD1-related FALS with posterior column involvement [1-5]. Degeneration of the dentatorubral system has not been reported in FALS with SOD1 mutation. Based on clinical, genetic and pathological findings with a review of the literature, we suggest that degeneration of the dentatorubral system and the absence of LBHIs in our case are pathological features in FALS with the Gly93Ser mutation.
机译：我们描述了一名39岁的日本女性，具有家族肌萎缩的外侧硬化症（FAL），我们在Cu / Zn超氧化酶歧化酶-1（SOD1）基因的外显子4中鉴定了畸形突变（Gly93-> Ser），其中没有病理数据已提供。患者的阿姨在67岁时死于ALS。我们的患者从23岁开始发育腿部肌肉虚弱。在24岁时，她也经历了武器的弱点。在30岁时，她表现出嘶嘶声和吞咽困难。她从36岁开始睡着了。在38岁时，她在呼吸方面遇到了困难。疾病发病后十六年，在39年龄，患者死于呼吸衰竭。她没有明确的上电机神经元参与。神经病变逻辑检查显示Clarke的核（图1）中的神经元损失，纺丝机骨骼纤维的纤维损失和后柱（图2），以及牙本质ub系统（图3和4）的退化，除了上部和下运动神经元系统的退化（图5）。标记的萎缩和髓鞘粘液存在于高级小脑梗死中（图6）。我们的案例显示出对前喇叭细胞的严重丧失，但皮质脊髓晶体的温和变化。然而，患者没有石油体状透明夹杂物（LBHI），其是突变体SOD1相关FAL的特征，具有后柱参与[1-5]。牙齿ubrum系统的退化尚未以SOD1突变报告。基于临床，遗传和病理结果与文献综述，我们建议在我们的案例中的牙本质鲁瓦系统的退化和缺乏LBHIS，具有GLY93SER突变的FAL中的病理特征。

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