Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene
Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene
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DOI：
10.1016/j.jns.2009.03.010
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发表时间：
2009-06-15
影响因子：
4.4
通讯作者：
Uchino, Makoto
中科院分区：
文献类型：
--
作者：
Yamashita, Satoshi;Kimura, En;Uchino, Makoto
我们报告了3例铜/锌超氧化物歧化酶基因第46位组氨酸到精氨酸替换的病例。与以前的报道一致，每个患者的首发症状都是小腿远端肌肉的单侧无力。值得注意的是，这些患者在疾病早期的肌肉萎缩更多地发生在屈肌组，而伸肌组在长期观察中保持完好。更有趣的是，在疾病的早期阶段，对受影响的肌肉进行活组织检查，发现有坏死和再生的肌纤维，并有淋巴细胞的渗透，类似于炎症性肌病。这些新发现可能为家族性肌萎缩侧索硬化症的病理生理学提供进一步的见解。(C)2009爱思唯尔B.V.保留所有权利。
We present the cases of 3 patients with a histidine-to-arginine substitution at position 46 of the Cu/Zn superoxide dismutase gene. Consistent with previous reports, the initial symptom in each patient was unilateral weakness in the distal leg muscles. Remarkably, muscular atrophy in these patients during the early stage of the disease was more specific to the flexor muscle group, with the extensor muscle group remaining intact over long-term observation. More interestingly, biopsy of the affected muscle in the early stage of the disease revealed necrotic and regenerative myofibers with infiltration of lymphocytes, resembling inflammatory myopathy. These novel findings might provide further insights into the pathophysiology of familial amyotrophic lateral sclerosis. (C) 2009 Elsevier B.V. All rights reserved.