Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
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DOI：
10.1212/wnl.0b013e31827f0fe5
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发表时间：
2013-01-01
期刊：
影响因子：
9.9
通讯作者：
Kusunoki, Susumu
中科院分区：
文献类型：
--
作者：
Hirano, Makito;Nakamura, Yusaku;Kusunoki, Susumu
目的：本研究的目的是在日本肌萎缩侧索硬化症 (ALS) 患者中发现编码 p62 的 SQSTM1 基因的突变，因为该基因最近在美国被确定为家族性和散发性 ALS 的致病基因。 方法：我们对 61 名日本散发性和家族性 ALS 患者的该基因进行了测序。据我们所知，我们首次描述了此类突变阳性患者的临床信息。结果：我们在 2 名散发性 ALS 患者中发现了新的突变 p.Ala53Thr 和 p.Pro439Leu。突变阳性患者的临床表现是典型的ALS，具有不同的上运动神经元体征。尽管该基因是另一种疾病佩吉特骨病 (PDB) 的致病因素，但我们的患者均未表现出伴随 PDB 的证据。结论：该种族人群中突变的存在表明，在世界范围内，SQSTM1 基因普遍参与 ALS。神经病学（R）2013；80：458-463
Objective: The purpose of this study was to find mutations in the SQSTM1 gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis (ALS), since this gene has been recently identified as a causative gene for familial and sporadic ALS in the United States.Methods: We sequenced this gene in 61 Japanese patients with sporadic and familial ALS. To our knowledge, we describe for the first time the clinical information of such mutation-positive patients.Results: We found novel mutations, p.Ala53Thr and p.Pro439Leu, in 2 patients with sporadic ALS. The clinical picture of the mutation-positive patients was that of typical ALS with varied upper motor neuron signs. Although this gene is causative for another disease, Paget disease of bone (PDB), none of our patients showed evidence of concomitant PDB.Conclusion: The presence of mutations in this racial population suggests worldwide, common involvement of the SQSTM1 gene in ALS. Neurology (R) 2013;80:458-463