RT期刊文章SR电子T1迟发性的遗传轴突神经学疾病摩根富林明乔神经病学FD Lippincott Williams &威尔金斯SP 14 OP 71做10.121首页2/01. wnl.0000304048.94023.73 VO是1 A1 c·l·贝内特A1 V。h·劳森A1 K。l . Brickell温泉A1 K。艾萨克斯A1 W。苏打水A1惠普时间A1 m·d·维斯A1 g·t·卡特A1 K。m . Flanigan A1 A1 t . d . p . f .机会鸟年2008 UL http://n.neurolo首页gy.org/content/71/1/14.abstract AB背景:遗传性运动感觉神经病变或综合症腓骨肌萎缩代表相当大的遗传异质性。发作通常是在童年时期,青春期或成年早期。本研究的目的是定义晚发性形式的障碍。方法:临床和遗传研究的家庭与均匀出现周围神经病变晚期表现在大学神经遗传学设置。结果:确定了六个家庭一直晚发型的主要轴突神经病变。 Median age at symptom onset was 57 years (range 35–85 years) of a mixed motor and sensory neuropathy with electrophysiologic characteristics of an axonal rather than demyelinating condition. There was a possible association with deafness. Two families showed autosomal dominant inheritance whereas four families had only one affected generation with an excess of males. An extensive mutation screen of nine genes known to cause Charcot-Marie-Tooth was negative. Conclusions: There are late-onset forms of hereditary axonal neuropathies. The genetic causes remain unknown and genetic heterogeneity within this entity is likely. AFO=ankle foot orthoses; BAC=bilateral arm crutches; CMAP/SNAP=compound motor and sensory nerve action potentials; CMT=Charcot-Marie-Tooth; CV=conduction velocities; HMSN=hereditary motor and sensory neuropathy; LON=late-onset neuropathy.

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