期刊
NATURE CLINICAL PRACTICE NEUROLOGY
卷 2, 期 1, 页码 45-53出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncpneuro0071
关键词
axonal neuropathy; Charcot-Marie-Tooth disease; HMSN II; motor neuropathy
Hereditary axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under the name of Charcot - Marie - Tooth (CMT) disease type 2 (CMT2). Historically, two classes of CMT have been differentiated: demyelinating forms of CMT (CMT1), in which nerve conduction velocities are decreased, and the axonal CMT2 forms, in which nerve conduction velocities are preserved. Recently, a number of genes that are defective in patients with the main forms of CMT2 have been identified. The molecular dissection of cellular functions of the related gene products has only just begun, and detailed pathophysiological models are still lacking. The known CMT2-related genes represent key players in these pathways, however, and are likely to provide powerful tools for identifying targets for future therapeutic intervention.
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