夏科-马里-图思病的病因。
The causes of Charcot-Marie-Tooth disease.
作者信息
Young P, Suter U
机构信息
Department of Neurology, University of Münster, Münster, Germany.
出版信息
Cell Mol Life Sci. 2003 Dec;60(12):2547-60. doi: 10.1007/s00018-003-3133-5.
Abstract
Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The genes found initially are predominantly responsible for demyelinating and dysmyelinating neuropathies. Genes affected in axonal and rare forms of CMT have only recently been identified. In this review, we will focus on the currently known genes that are associated with CMT syndromes with regards to their genetics and function.
摘要
夏科-马里-图思（CMT）病是最常见的遗传性周围神经病的统称，这些疾病会影响运动和感觉神经。在过去12年中，已鉴定出14个导致不同CMT亚型的基因。最初发现的基因主要与脱髓鞘和髓鞘形成异常性神经病有关。轴索性和罕见形式CMT所涉及的基因直到最近才被鉴定出来。在这篇综述中，我们将聚焦于目前已知的与CMT综合征相关的基因，探讨它们的遗传学和功能。
相似文献
1
The causes of Charcot-Marie-Tooth disease.夏科-马里-图思病的病因。
Cell Mol Life Sci. 2003 Dec;60(12):2547-60. doi: 10.1007/s00018-003-3133-5.
2
Charcot-Marie-Tooth disease and related inherited neuropathies.夏科-马里-图思病及相关遗传性神经病
Medicine (Baltimore). 1996 Sep;75(5):233-50. doi: 10.1097/00005792-199609000-00001.
3
Genetic epidemiology of Charcot-Marie-Tooth disease.夏科-马里-图思病的遗传流行病学
Acta Neurol Scand Suppl. 2012(193):iv-22. doi: 10.1111/ane.12013.
4
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.夏科-马里-图思病中突变蛋白的发病机制
Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1-2:217.
5
Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease.夏科-马里-图思病的发病机制及潜在治疗策略
Brain Res Brain Res Rev. 2001 Oct;36(2-3):213-21. doi: 10.1016/s0165-0173(01)00097-2.
6
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.遗传性脱髓鞘神经病伴外周髓鞘蛋白 22 基因突变。
Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.
7
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.常染色体显性遗传性脱髓鞘型夏科-马里-图斯病的分子遗传学
Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43.
8
Molecular cell biology of Charcot-Marie-Tooth disease.夏科-马里-图思病的分子细胞生物学
Neurogenetics. 2002 Mar;4(1):1-15. doi: 10.1007/s10048-002-0130-z.
9
[Molecular genetics of Charcot-Marie-Tooth disease].[夏科-马里-图思病的分子遗传学]
Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18;37(1):100-5.
10
Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice.靶向集落刺激因子 1 受体可缓解两种形式的 Charcot-Marie-Tooth 病小鼠模型的症状。
Brain. 2015 Nov;138(Pt 11):3193-205. doi: 10.1093/brain/awv240. Epub 2015 Aug 21.
引用本文的文献
1
Animal Models of CMT2A: State-of-art and Therapeutic Implications.CMT2A的动物模型：最新进展与治疗意义
Mol Neurobiol. 2020 Dec;57(12):5121-5129. doi: 10.1007/s12035-020-02081-3. Epub 2020 Aug 27.
2
A probabilistic model to predict clinical phenotypic traits from genome sequencing.一种从基因组测序预测临床表型特征的概率模型。
PLoS Comput Biol. 2014 Sep 4;10(9):e1003825. doi: 10.1371/journal.pcbi.1003825. eCollection 2014 Sep.
3
Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice.雷帕霉素可改善周围神经髓鞘形成，但对神经病变小鼠的神经肌肉功能无益处。
Neurobiol Dis. 2014 Oct;70:224-36. doi: 10.1016/j.nbd.2014.06.023. Epub 2014 Jul 9.
4
Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.与遗传性运动感觉神经病相关的 Rab7 突变导致生长因子受体运输延迟和内体及核信号改变。
J Biol Chem. 2013 Jan 11;288(2):1135-49. doi: 10.1074/jbc.M112.417766. Epub 2012 Nov 27.
5
Rab proteins and the secretory pathway: the case of rab18 in neuroendocrine cells.Rab 蛋白与分泌途径：以神经内分泌细胞中的 rab18 为例。
Front Endocrinol (Lausanne). 2011 Jan 17;2:1. doi: 10.3389/fendo.2011.00001. eCollection 2011.
6
Gap junction communication in myelinating glia.有髓神经胶质细胞中的缝隙连接通讯
Biochim Biophys Acta. 2013 Jan;1828(1):69-78. doi: 10.1016/j.bbamem.2012.01.024. Epub 2012 Feb 3.
7
Functional and comparative genomics analyses of pmp22 in medaka fish.青鳉鱼中pmp22的功能和比较基因组学分析。
BMC Neurosci. 2009 Jun 17;10:60. doi: 10.1186/1471-2202-10-60.
8
Treatment for Charcot-Marie-Tooth disease.夏科-马里-图思病的治疗方法。
Cochrane Database Syst Rev. 2008 Jan 23;2008(1):CD006052. doi: 10.1002/14651858.CD006052.pub2.
9
Role of immune cells in animal models for inherited peripheral neuropathies.免疫细胞在遗传性周围神经病动物模型中的作用。
Neuromolecular Med. 2006;8(1-2):175-90. doi: 10.1385/nmm:8:1-2:175.
10
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.日本夏科-马里-图斯病患者的外周蛋白突变
J Hum Genet. 2006;51(7):625-8. doi: 10.1007/s10038-006-0408-3. Epub 2006 Jun 13.
本文引用的文献
1
Descending thoracic and abdominal aortic coarctation in the young: Surgical treatment after percutaneous approaches failure.年轻患者降主动脉和腹主动脉缩窄：经皮治疗失败后的外科治疗
J Vasc Surg. 2008 Apr;47(4):865-7. doi: 10.1016/j.jvs.2007.10.048.
2
Palliation via hybrid procedure of a 1.4-kg patient with a hypoplastic left heart.对一名体重1.4千克的左心发育不全患者采用杂交手术进行姑息治疗。
Congenit Heart Dis. 2007 May-Jun;2(3):191-3. doi: 10.1111/j.1747-0803.2007.00096.x.
3
Balloon valvuloplasty of aortic valve stenosis in childhood: early and medium term results.儿童主动脉瓣狭窄的球囊瓣膜成形术：早期和中期结果
Clin Res Cardiol. 2008 Sep;97(9):587-93. doi: 10.1007/s00392-008-0655-8. Epub 2008 Mar 17.
4
Percutaneous implantation of pulmonary valves for treatment of right ventricular outflow tract dysfunction.经皮肺动脉瓣植入术治疗右心室流出道功能障碍。
Cardiol Young. 2008 Jun;18(3):260-7. doi: 10.1017/S1047951108002151. Epub 2008 Mar 14.
5
Percutaneous pulmonary valve-in-valve implantation: a successful treatment concept for early device failure.经皮肺动脉瓣中瓣植入术：早期器械故障的成功治疗理念
Eur Heart J. 2008 Mar;29(6):810-5. doi: 10.1093/eurheartj/ehn073. Epub 2008 Mar 3.
6
Stenting complex aortic arch obstructions.复杂主动脉弓梗阻的支架置入术。
Catheter Cardiovasc Interv. 2008 Feb 15;71(3):375-82. doi: 10.1002/ccd.21357.
7
Aortic valvuloplasty in pediatric patients substantially postpones the need for aortic valve surgery: a single-center experience of 188 patients after up to 17.5 years of follow-up.儿科患者的主动脉瓣成形术显著推迟了主动脉瓣手术的需求：一项对188例患者长达17.5年随访的单中心经验。
Circulation. 2008 Mar 4;117(9):1201-6. doi: 10.1161/CIRCULATIONAHA.107.687764. Epub 2008 Feb 19.
8
The Amplatzer Septal Occluder, a transcatheter device for atrial septal defect closure.Amplatzer房间隔封堵器，一种用于经导管闭合房间隔缺损的装置。
Expert Rev Med Devices. 2008 Jan;5(1):25-31. doi: 10.1586/17434440.5.1.25.
9
Implantation of stents for treatment of recurrent and native coarctation in children weighing less than 20 kilograms.为体重不足20公斤的儿童植入支架治疗复发性和原发性主动脉缩窄。
Cardiol Young. 2007 Dec;17(6):617-22. doi: 10.1017/S1047951107001448. Epub 2007 Oct 31.
10
The hybrid cardiac catheterization laboratory for congenital heart disease: From conception to completion.先天性心脏病杂交心导管实验室：从构思到建成。
Catheter Cardiovasc Interv. 2008 Feb 15;71(3):418-28. doi: 10.1002/ccd.21318.
Zotero 插件