[1] Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis[J]. Nat Rev Neurol, 2014, 10:661- 670. [2] Bernard E, Pegat A, Svahn J, Bouhour F, Leblanc P, Millecamps S, Thobois S, Guissart C, Lumbroso S, Mouzat K. Clinical and molecular landscape of ALS patients with SOD1 mutations:novel pathogenic variants and novel phenotypes. A single ALS center study[J]. Int J Mol Sci, 2020, 21:6807. [3] Shang HF. Progress in gene diagnosis of amyotrophic lateral sclerosis[J]. Zhonghua Shen Jing Ke Za Zhi, 2020, 53:50-54.[商慧芳. 肌萎缩侧索硬化的基因诊断及进展[J]. 中华神经科杂志, 2020, 53:50-54.] [4] Wu RP, Feng B, Ren ZH, Gu C, Gao FL, Zhang Y. Analysis of SOD1 gene polymorphism and clinical phenotype in amyotrophic lateral sclerosis[J]. Zhongguo Shen Jing Jing Shen Ji Bing Za Zhi, 2021, 47:283-285.[吴瑞鹏, 冯斌, 任占宏, 谷成, 高福林, 张毅. 肌萎缩侧索硬化SOD1基因多态性与临床表型分析[J]. 中国神经精神疾病杂志, 2021, 47:283-285.] [5] Liu Y, Zhu Y, Jiang JX, Jiang SS, Xu RS. Research progress on autophagy and pathogenic proteins of amyotrophic lateral sclerosis[J]. Zhongguo Lao Nian Xue Za Zhi, 2022, 42:1239-1243.[刘玥, 朱瑜, 江建香, 江师师, 徐仁伵. 肌萎缩侧索硬化致病蛋白与自噬相关研究进展[J]. 中国老年学杂志, 2022, 42:1239-1243.] [6] Luo HM, Chen H. Research progress of SOD1 mutation and mediated mitochondrial abnormalities in amyotrophic lateral sclerosis[J]. Zhongguo Kang Fu, 2021, 36:380-384.[罗红梅, 陈红. SOD1突变及其介导的线粒体异常在肌萎缩侧索硬化症中的研究进展[J]. 中国康复, 2021, 36:380-384.] [7] Ma J, Feng HL. Molecular genetic mechanism of amyotrophic lateral sclerosis[J]. Yi Xue Zong Shu, 2022, 28:2762-2767.[马金, 丰宏林. 肌萎缩侧索硬化致病的分子遗传学机制[J]. 医学综述, 2022, 28:2762-2767.] [8] Chiò A, Moglia C, Canosa A, Manera U, Vasta R, Brunetti M, Barberis M, Corrado L, D'Alfonso S, Bersano E, Sarnelli MF, Solara V, Zucchetti JP, Peotta L, Iazzolino B, Mazzini L, Mora G, Calvo A. Cognitive impairment across ALS clinical stages in a population-based cohort[J]. Neurology, 2019, 93:e984-994. [9] Jing L, Cao LL. Research progress of non-motor symptoms in patients with amyotrophic lateral sclerosis[J]. Jing Zhun Yi Xue Za Zhi, 2019, 34:81-84.[金亮, 曹丽丽. 肌萎缩侧索硬化病人的非运动症状研究进展[J]. 精准医学杂志, 2019, 34:81- 84.] [10] Wang XN, Cui LY, Liu MS, Guan YZ, Li BH, Du H. A study of autonomic dysfunction and sympathetic skin response in motor neuron disease[J]. Zhonghua Yi Xue Za Zhi, 2014, 94:3224-3228.[王心宁, 崔丽英, 刘明生, 管宇宙, 李本红, 杜华. 运动神经元病患者自主神经功能与皮肤交感神经反应的观察[J].中华医学杂志, 2014, 94:3224-3228.] [11] Chiò A, Mora G, Lauria G. Pain in amyotrophic lateral sclerosis[J]. Lancet Neurol, 2017, 16:144-157. [12] İşcan D, Karaaslan MB, Deveci OS, Akıllı Eker R, Koç F. The importance of heart rate variability in predicting cardiac autonomic dysfunction in patients with amyotrophic lateral sclerosis[J]. Int J Clin Pract, 2021, 75:e14536. [13] Oliveira Santos M, Castro I, Castro J, Gromicho M, de Carvalho M. Assessment of sympathetic sudomotor function in amyotrophic lateral sclerosis with electrochemical skin conductance[J]. Clin Neurophysiol, 2021, 132:2032-2036. [14] Papadopoulou M, Bakola E, Papapostolou A, Stefanou MI, Moschovos C, Salakou S, Zis P, Zouvelou V, Kimiskidis VK, Chroni E, Tsivgoulis G. Autonomic dysfunction in amyotrophic lateral sclerosis:a neurophysiological and neurosonology study[J]. J Neuroimaging, 2022, 32:710-719. [15] McCluskey L, Vandriel S, Elman L, Van Deerlin VM, Powers J, Boller A, Wood EM, Woo J, McMillan CT, Rascovsky K, Grossman M. ALS-Plus syndrome:non-pyramidal features in a large ALS cohort[J]. J Neurol Sci, 2014, 345:118-124. [16] Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited:revised criteria for the diagnosis of amyotrophic lateral sclerosis[J]. Amyotroph Lateral Scler Other Motor Neuron Disord, 2000, 1:293-299. [17] Beswick E, Forbes D, Hassan Z, Wong C, Newton J, Carson A, Abrahams S, Chandran S, Pal S. A systematic review of non-motor symptom evaluation in clinical trials for amyotrophic lateral sclerosis[J]. J Neurol, 2022, 269:411-426. [18] Kawata A, Kato S, Hayashi H, Hirai S. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene[J]. J Neurol Sci, 1997, 153:82-85. [19] Sakamoto H, Akamatsu M, Hirano M, Saigoh K, Ueno S, Isono C, Kusunoki S, Nakamura Y. Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene[J]. Amyotroph Lateral Scler Frontotemporal Degener, 2014, 15:312- 314. [20] Hu YT, Hou X, Tang BS, Wang JL. Research progress of somatosensory involvement in amyotrophic lateral sclerosis[J]. Zhonghua Shen Jing Ke Za Zhi, 2021, 54:296-302.[胡一婷, 侯漩, 唐北沙, 王俊岭. 肌萎缩侧索硬化感觉神经系统损害研究进展[J]. 中华神经科杂志, 2021, 54:296-302.] [21] Osman NI, Chapple CR, Abrams P, Dmochowski R, Haab F, Nitti V, Koelbl H, van Kerrebroeck P, Wein AJ. Detrusor underactivity and the underactive bladder:a new clinical entity. A review of current terminology, definitions, epidemiology, aetiology, and diagnosis[J]? Eur Urol, 2014, 65:389-398. [22] Smith PP, Chalmers DJ, Feinn RS. Does defective volume sensation contribute to detrusor underactivity[J]? Neurourol Urodyn, 2015, 34:752-756. [23] Zhao L, Cui LY, Du H, Li BH, Wu S. Analysis of the causes of micturition and defecation dysfunction in motor neuron disease patients[J]. Zhonghua Shen Jing Ke Za Zhi, 2014, 47:767-771.[赵蕾, 崔丽英, 杜华, 李本红, 吴双. 运动神经元病伴随尿便功能障碍的原因分析[J]. 中华神经科杂志, 2014, 47:767- 771.] [24] Schellino R, Boido M, Vercelli A. The dual nature of Onuf's nucleus:neuroanatomical features and peculiarities, in health and disease[J]. Front Neuroanat, 2020, 14:572013. [25] Kiernan JA, Hudson AJ. Changes in shapes of surviving motor neurons in amyotrophic lateral sclerosis[J]. Brain, 1993, 116(Pt 1):203-215. [26] Sasaki S, Maruyama S. A fine structural study of Onuf's nucleus in sporadic amyotrophic lateral sclerosis[J]. J Neurol Sci, 1993, 119:28-37. [27] Kihira T, Yoshida S, Yoshimasu F, Wakayama I, Yase Y. Involvement of Onuf's nucleus in amyotrophic lateral sclerosis[J]. J Neurol Sci, 1997, 147:81-88. [28] Hydrocephalus Group, Neurodegenerative Diseases Professional Committee, Chinese Microcirculation Society; Geriatric Medicine Branch, Chinese Medical Association; Beijing Neurodegenerative Society. Chinese guidelines for clinical management of idiopathic normal pressure hydrocephalus (2022)[J]. Zhonghua Lao Nian Yi Xue Za Zhi, 2022, 41:123-134.[中国微循环学会神经变性病专业委员会脑积水学组, 中华医学会老年医学分会, 北京神经变性病学会. 特发性正常压力脑积水临床管理中国指南(2022)[J]. 中华老年医学杂志, 2022, 41:123-134.] [29] Yang F, Huang XS. Advances in diagnosis and treatment of LEMS[J]. Xi Nan Guo Fang Yi Yao, 2020, 30:363-366.[杨飞,黄旭升. LEMS的诊断及治疗研究进展[J]. 西南国防医药, 2020, 30:363-366.] |