title: Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.
abstract: The autosomal-dominant axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under Charcot-Marie-Tooth disease type 2 (CMT2). A significant increase in the number of genes underlying major forms of CMT2 has improved the classification of specific CMT phenotypes. The molecular dissection of cellular functions of the related gene products has only begun and detailed pathophysiological models are still missing, but already the biological scope of genes linked to CMT2 is more diversified than CMT1. The known CMT2 genes present key players in these pathways and will likely prove as powerful tools in identifying eventual future targets for therapeutic intervention.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Box 3445 DUMC, Durham, NC 27710, USA. szuchner@duke.edu
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D001369:Axons / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D002881:Chromosomes, Human, Pair 12; D020558:GTP Phosphohydrolases; D005799:Genes, Dominant / Q000235:genetics*; D055551:HSP27 Heat-Shock Proteins; D006360:Heat-Shock Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D016547:Kinesins / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics / Q000378:metabolism; D008967:Molecular Biology; D018832:Molecular Chaperones; D018993:Myelin P0 Protein / Q000235:genetics / Q000378:metabolism; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D016900:Neurofilament Proteins / Q000235:genetics / Q000378:metabolism; D009687:Nuclear Proteins; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D020691:rab GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism; D000090802:rab7 GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C118663:GDAP protein; D055551:HSP27 Heat-Shock Proteins; C057725:HSPB1 protein, human; C413214:HSPB8 protein, human; D006360:Heat-Shock Proteins; C091053:KIF1B protein, human; C470309:MAD2L1BP protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; D018993:Myelin P0 Protein; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; D009687:Nuclear Proteins; C044882:neurofilament protein L; D000090802:rab7 GTP-Binding Proteins; D017346:Protein Serine-Threonine Kinases; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human; D016547:Kinesins; D020691:rab GTP-Binding Proteins