A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy
A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy
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SOD1基因L126S突变的ALS伴孤立性下橄榄体肥大的临床病理学研究
DOI：
10.1111/neup.12620
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发表时间：
2019
期刊：
影响因子：
2.3
通讯作者：
Mochizuki Hideki
中科院分区：
文献类型：
--
作者：
Hideshima Makoto;Beck Goichi;Yamadera Misaki;Motoyama Yuichi;Ikenaka Kensuke;Kakuda Keita;Tsuda Hiroshi;Nagano Seiichi;Fujimura Harutoshi;Morii Eiichi;Murayama Shigeo;Mochizuki Hideki
我们报告一例肌萎缩侧索硬化症的尸检病例，超氧化物歧化酶1（SOD1）基因（SOD1）发生L126S突变。患者为一名69岁的日本男性，无相关家族史，最初表现为下肢缓慢进行性肌无力，无上运动神经元体征，并在发病后6年死于呼吸衰竭。神经病理学检查显示，下运动神经元的损失和退化的克拉克柱相称的后脊髓小脑束和后柱的中间根区。主要运动区受到的影响最小。特征性SOD1免疫阳性神经元胞质内包涵体，与神经丝积聚混合，存在于受累区域。孤立的下橄榄肥大观察，但没有涉及对侧齿状核，或同侧红核和中央被盖tract，在那里没有神经元inclusionswerenfound.In从以前的尸检病例的数据相结合，这项研究表明，L126S突变可能会导致局灶性神经元变性的脑干。
We report an autopsy case of amyotrophic lateral sclerosis with L126S mutation in the superoxide dismutase 1 (SOD1) gene (SOD1). The patient was a 69‐year‐old Japanese man without relevant family history, who initially presented with slow progressive muscle weakness of the lower extremities without upper motor neuron signs, and died of respiratory failure 6 years after the onset. Neuropathological examination revealed a loss of lower motor neurons and degeneration of Clarke's column commensurate with that of the posterior spinocerebellar tract and the middle root zone of the posterior column. The primary motor area was minimally affected. Characteristic SOD1‐immunopositive neuronal intracytoplasmic inclusions, mixed with neurofilament accumulation, were present in the affected areas. Isolated inferior olivary hypertrophy was observed, but did not involve the contralateral dentate nucleus, or the ipsilateral red nucleus and central tegmental tract, where no neuronal inclusions were found. In combination with data from a previous autopsy case, this study suggests that the L126S mutation may cause focal neuronal degeneration in the brainstem.