摘要
巨轴索神经病(giant axonal neuropathy,GAN)是一种累及周闹神经和中枢神经系统的遗传性中间丝蛋白病,该病于1972年首次报道。目前已明确其致病基因为gigaxonin。经典型的患者常在7岁前发病,除表现为进行性的运动感觉性周用神经病外,
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2011年第8期583-584,共2页
Chinese Journal of Neurology
参考文献6
-
1Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeietal BTB/kelch repeat family, ismutated in gianl axonal neuropathy. Nat Genet, 2000. 26:370-374.
-
2Tazir M,Nouioua S,Magy L, et al. Phenotypic variability in giant axonal neuropathy. Neuromuscul Disord ,2009 ,19 :270-274.
-
3徐敏,刘璐,耿志伟,贾建平.巨轴索神经病一例临床、病理与分子遗传学[J].中华神经科杂志,2008,41(7):462-464. 被引量:3
-
4Alien E,Ding J. Wang W,et al. Gigaxonin-controlled degradation of MAPIB light chain is critical to neuronal survival. Nature, 2005,438:224-228.
-
5Koop O, Schinuacher A, Nelis E, et al. Genotype-phenotype tmalysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord ,2007,17:624-630,.
-
6Bruno C, Bertini E, Federico A. et al. Clinical and molecular findings in patients with giant axon'.d nem'opathy (GAN). Neurology, 2004,62 : 13 - 16.
二级参考文献12
-
1Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet, 2000,26: 370-374.
-
2Lampl Y, Eshel Y, Ben-David E, et al. Giant axonal neuropathy with predominant central nervous system manifestations. Dev Med Child Neurol, 1992, 34 : 164-169.
-
3Malandrini A, Dotti MT, Battisti C, et al. Giant axonal neuropathy with subclinical involvement of the central nervous system: case report. J Neurol Sci, 1998, 158: 232-235.
-
4Brockmann K, Pouwels PJ, Dechent P, et al. Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. Brain Dev, 2003, 25: 45-50.
-
5Mohri I, Taniike M, Yoshikawa H, et al. A ease of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments. Brain Dev, 1998, 20: 594-597.
-
6Donaghy M, King RH, Thomas PK, et al. Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. J Neurocytol, 1988, 17: 197-208.
-
7Tazir M, Vallat JM, Bomont P, et al. Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. Neuromuscul Disord, 2002, 12: 849-852.
-
8Koop O, Sehimaeher A, Nelis E, et al. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord, 2007, 17: 624-630.
-
9Schochet SS Jr, Chesson AL Jr. Giant axonal neuropathy: possibly secondary to vitamin b12 malabsorption. Acta Neuropathol, 1977, 40 : 79-83.
-
10Davenport JG, Farrell DF, Sumi M. "Giant axonal neuropathy" caused by industrial chemicals: neurofilamentous axonal masses in man. Neurology, 1976, 26: 919-923.
共引文献2
-
1张礼萍,邹丽萍.巨轴索神经病家系的临床和基因诊断研究[J].实用儿科临床杂志,2010,25(15):1171-1173.
-
2王丽,段丽芬,边成,王晓辉,黄小琴,褚嘉祐,杨昭庆.巨轴索神经病1例临床表现及基因突变分析并文献复习[J].中国实用儿科杂志,2024,39(7):555-560.
引证文献2
-
1李毅,孟令超,吕鹤,张巍,王朝霞,刘靖,左越焕,袁云.误诊为慢性炎性脱髓鞘性多发性神经根神经病的正己烷中毒性周围神经病两例临床分析[J].中国现代神经疾病杂志,2019,19(6):405-410. 被引量:4
-
2胡静,郭璇.巨轴索神经病[J].中华神经科杂志,2023,56(8):918-923.
二级引证文献4
-
1亢悦婷,王鑫,关爽,刘威,刘忠良,段晓琴.东北地区正常人群四肢近端神经传导速度研究[J].中风与神经疾病杂志,2020,37(1):35-40. 被引量:3
-
2李根.甲基强的松龙冲击治疗甲醇中毒性视神经病变的临床观察[J].中国工业医学杂志,2020,33(5):419-420.
-
3娄华,逄涛,梅运涛.鼠神经生长因子配合甲钴胺治疗慢性酒精中毒性周围神经病效果及对患者神经传导速度的影响[J].临床研究,2021,29(3):56-57. 被引量:3
-
4袁云,李圳钰.周围神经病的诊断策略[J].中华神经科杂志,2024,57(4):387-392.
-
1徐敏,刘璐,耿志伟,贾建平.巨轴索神经病一例临床、病理与分子遗传学[J].中华神经科杂志,2008,41(7):462-464. 被引量:3
-
2李春岩,高长玉,张祥建,薛平,张国华,刘瑞春,王桂荣,杨程.格林-巴利综合征病理学、电生理学及免疫学的初步研究[J].河北医药,1993,15(2):131-133. 被引量:4
-
3崔毅,郑惠民,邓本强,刘莹.一家系遗传性运动感觉性神经病的神经电生理检查[J].临床脑电学杂志,1995,4(3):154-156.
-
4范虹颖,付莉.格林-巴利综合征21例临床分析[J].中国冶金工业医学杂志,2006,23(1):48-49.
-
5赵萍,张晓春,李红.急性运动轴索神经病[J].宁夏医学杂志,1995,17(1):58-59.
-
6赵萍,张晓春.急性运动轴索神经病[J].宁夏医科大学学报,1995,30(4):400-400.
-
7刘红巾,宋东林,张歆斌,金刚.慢性复发性轴索神经病1例报告[J].中国神经精神疾病杂志,1997,23(3):184-185.
-
8郝永楠,赵伟佳.Nestin的研究进展[J].广西医科大学学报,2007,24(4):650-652. 被引量:5
-
9李冰,杨立彬,杨亚平,袁雄伟,梁志学.31例格林-巴利综合征病因学研究[J].实用儿科临床杂志,2001,16(6):420-421. 被引量:1
-
10张晓君,张振馨.中国北方六省市格林-巴利综合征分析──是一种新的疾病实体吗?[J].中华神经精神科杂志,1994,27(6):348-352. 被引量:11