中间型腓骨肌萎缩症的临床、神经电生理及病理研究
被引量:1
摘要
腓骨肌萎缩症(CMT)是一类具有高度临床和遗传异质性的周围神经病,依据电生理和病理特点可分为两型:CMT1型(脱髓鞘型)和CMT2型(轴索型)。然而,临床实践发现许多患者兼具有两型的特点,因此有人提出CMT中间型的概念一。我们总结了5年来诊治的CMT患者共60例,对其临床、神经电生理和病理特点进行系统分析,并探寻中间型CMT的特点。
出处
《中华医学杂志》
CAS
CSCD
北大核心
2008年第31期2223-2225,共3页
National Medical Journal of China
参考文献12
-
1Rossi A, Paradiso C, Cioni R, et al. Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. Neurology, 1985, 232:91-98.
-
2Malandrini A, CeuterickC, Villa.nov M, et al. Ultrastructural findingsin the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease. J Submicrosc Cytol Pathol, 2001, 33:59-63.
-
3Ouvrier R, Geevasingha N, Ryan MM. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve, 2007, 36:131-143.
-
4Swaiman KF, Iannaccone ST. Hereditary neuropathies. Pediatric Neurology. 3rd, ed. St. Louis: Mosby, 1999:1184-1189.
-
5Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types Ⅰ and Ⅱ. Brain, 1980, 103:258-280.
-
6Kennerson ML, Zhu D, Gardner RJM, et al. Dominant intermediate Charcot-Marie-Tooth neumpathy maps to chromosome 19p12-p13.2. Am J Hum Genet, 2001,69:883-888.
-
7Jordanova A, Thomas FP, Guergueltcheva V, et al. Dominant intermediate Charcot-Marie-Tooth Type C maps to chromosome 1p34-p35. Am J Hum Genet, 2003 ,73 : 1423-1430.
-
8Villanova M, TimmermanV, Jonghe PD, et al. Charcot-Marie- Tooth disease: an intermediate form. Neuromuscular Disorders, 1998,8:392-393.
-
9Ouvrier RA, Wilmshurst J. Overview of the neuropathies // Jones HR, De Vivo DC, Darras BT. Neuromuscular disorders of infancy, childhood and adolescence. Boston : Butterworth Heinemann, 2003:339-360.
-
10Zuchner S, Noureddine M, Kennerson M, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Chareot-Marie-Tooth disease. Nature genetics, 2005, 37:289-294.
同被引文献8
-
1张淑玲,张斌,张洪涛,姜秀云,宋新光.腓骨肌萎缩症的临床特点与神经电生理检查20例分析[J].中国误诊学杂志,2007,7(4):829-830. 被引量:3
-
2Kalkman JS, Zwarts MJ, Schillings ML, et al. Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue [J]. Neurol Sci, 2008, 29 (2): 238-240.
-
3Lassuthova P, Mazanec R, Vondracek P, et at. High frequency of SH3TC2 mutations in Czech HMSN I patients [J]. Clin Genet, 2011, 80(4): 334-345.
-
4张楠楠,潘志宏,叶红莲,玄璿,潘晓丽.29例腓骨肌萎缩症患者的神经电生理检测特征性分析[J].中国神经精神疾病杂志,2009,35(1):3-6. 被引量:5
-
5孙顺昌,张海鸥.腓骨肌萎缩症研究概述[J].中国神经精神疾病杂志,2010,36(1):60-63. 被引量:2
-
6李瑞霞,曹勇军,罗蔚锋,戴永萍,包仕尧,刘春风.腓骨肌萎缩症的临床、电生理和遗传学特点(附1家系报告)[J].临床神经病学杂志,2010,23(2):135-136. 被引量:3
-
7黄献,宋治,郑文,黄顺祥.腓骨肌萎缩症患者的临床与神经电生理特征分析[J].现代电生理学杂志,2010,17(3):139-142. 被引量:2
-
8王国相,段晓慧,顾卫红.腓骨肌萎缩症的遗传异质性和临床变异性[J].中华神经科杂志,2010,43(10):677-680. 被引量:3
-
1肖波,苏曼.中枢神经系统缝隙连接研究进展[J].国外医学(生理病理科学与临床分册),2002,22(3):205-208. 被引量:4
-
2吴志国,张进,肖波,肖剑锋,李静.腓骨肌萎缩症1A型基因诊断的特异性分析[J].中国临床康复,2004,8(13):2470-2471.
-
3张如旭,唐北沙.腓骨肌萎缩症的分子生物学研究进展[J].国际神经病学神经外科学杂志,2006,33(3):270-274. 被引量:7
-
4李玄英,倪家骧.HIV相关性神经痛[J].中国艾滋病性病,2010,16(5):519-522.
-
5束晓梅,蔡方成,张晓萍.空肠弯曲菌HB9313及galE变异株抗血清诱导周围神经病变的差异[J].中华微生物学和免疫学杂志,2005,25(4):329-330.
-
6基因也会导致遗传性神经疾病[J].基础医学与临床,2005,25(3):226-226.
-
7赵晓曦,维君.腓骨肌萎缩症遗传方式及遗传咨询[J].中国优生与遗传杂志,1997,5(3):101-101.
-
8孙元明,李向林,李雨民,樊飞跃.腓骨肌萎缩症一家系28例[J].中华医学遗传学杂志,2005,22(3):271-271.
-
9叶玉琴,朱丹,王可人.腓骨肌萎缩症的临床及神经电生理研究[J].中风与神经疾病杂志,2009,26(2):241-241. 被引量:6
-
10笪宇威,沈定国.腓骨肌萎缩症1A型基因重复的检测[J].中华神经科杂志,2000,33(4):45-47. 被引量:4