Experimental therapeutics in hereditary neuropathies: The past, the present, and the future

被引:17
作者
Herrmann, David N. [1 ]
机构
[1] Univ Rochester, Med Ctr, Dept Neurol NMD, Rochester, NY 14642 USA
关键词
Charcot-Marie-Tooth neuropathies; peripheral neuropathy; hereditary neuropathy; outcome measure; clinical trial design; therapy;
D O I
10.1016/j.nurt.2008.07.001
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Hereditary neuropathies represent approximately 40% of undiagnosed neuropathies in a tertiary clinic setting. The Charcot-Marie-Tooth neuropathies (CMT) are the most common. Mutations in more than 40 genes have been identified to date in CMT. Approximately 50% of CMT cases are accounted for by CMT type 1A, due to a duplication within the peripheral myelin protein 22 gene (PMP22). Mutations in the gap junction beta 1 gene (GJB1), the myelin protein zero gene (MPZ), and the mitofusin 2 gene (MFN2) account for a substantial proportion of other genetically definable CMT. Some 15% of demyelinating CMT and 70% of axonal CMT await genetic clarification. Other hereditary neuropathies include the hereditary sensory and autonomic neuropathies, the familial amyloid polyneuropathies, and multi-system disorders (e. g., lipid storage diseases and inherited ataxias) that have peripheral neuropathy as a major or minor component. This review surveys the challenges of developing effective therapies for hereditary neuropathies in terms of past, present, and future experimental therapeutics in CMT.
引用
收藏
页码:507 / 515
页数:9
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