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首页> 外文期刊>Journal of neurology >Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation
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Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

机译：由新的FUS / TLS基因移码突变引起的下运动神经元疾病

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摘要

A 26-year-old Japanese man (patient 1, Fig. la) suffered from distal weakness of the right leg. After a few months, he began to stumble frequently and gradually developed distal weakness of the right upper limb. He was then admitted to our hospital. On physical examination, he was alert and his mental status was normal. He had no cognitive abnormalities. He had distal dominant muscular atrophy and weakness in the right extremities. His ocular movements were normal, and he did not display any signs of dysarthria, dysphasia, facial weakness, or tongue abnormalities. Muscle tonus was normal, no fasciculation was seen in any of the extremities and the deep tendon reflex was decreased to absent. He had no urinary or bowel disturbance, and no sensory impairment nor cerebellar ataxia. A nerve conduction study revealed a decrease in F-wave frequency in the right extremities.
机译：一名26岁的日本男子（患者1，图1a）患有右腿远端无力。几个月后，他开始经常跌倒，并逐渐发展为右上肢的远端无力。然后他被送进我们医院。进行身体检查时，他机敏，精神状态正常。他没有认知异常。他患有远端优势肌萎缩症和右肢无力。他的眼球运动正常，没有任何构音障碍，吞咽困难，面部无力或舌头异常的迹象。肌张力正常，在任何四肢均未见束缚，深腱反射减弱至消失。他没有泌尿或肠蠕动，也没有感觉障碍或小脑性共济失调。一项神经传导研究显示，右肢F波​​频率降低。

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