title: Charcot-marie-tooth disease: seventeen causative genes.
abstract: Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified as CMT-causative. CMT has two usual classifications: type 1, the demyelinating form (CMT1); and type 2, the axonal form (CMT2). In addition, patients are classified as CMTX if they have an X-linked inheritance pattern and CMT4 if the inheritance pattern is autosomal recessive. A large amount of new information on the genetic causes of CMT has become available, and mutations causing it have been associated with more than 17 different genes and 25 chromosomal loci. Advances in our understanding of the molecular basis of CMT have revealed an enormous diversity in genetic mechanisms, despite a clinical entity that is relatively uniform in presentation. In addition, recent encouraging studies - shown in CMT1A animal models - concerning the therapeutic effects of certain chemicals have been published; these suggest potential therapies for the most common form of CMT, CMT1A. This review focuses on the inherited motor and sensory neuropathy subgroup for which there has been an explosion of new molecular genetic information over the past decade.
authors.affiliation: Department of Neurology and Ewha Medical Research Center, College of Medicine, Ewha Womans University, Seoul, Korea.
authors.forename: Jung-Hwa
authors.initials: JH
authors.lastname: Lee
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
references.citation: J Biol Chem. 2004 Jan 23;279(4):2394-402
references.pmid: 14594798
references.citation: J Mol Biol. 1984 Sep 5;178(1):47-62
references.pmid: 6207303
references.citation: J Biol Chem. 2005 Jul 15;280(28):26185-92
references.pmid: 15899901
references.citation: Neuron. 2001 May;30(2):355-68
references.pmid: 11394999
references.citation: Neurology. 1998 May;50(5):1397-401
references.pmid: 9595994
references.citation: Curr Opin Neurol. 2004 Oct;17(5):579-85
references.pmid: 15367862
references.citation: N Engl J Med. 1993 Jul 8;329(2):96-101
references.pmid: 8510709
references.citation: Neurogenetics. 2005 Sep;6(3):159-63
references.pmid: 15947997
references.citation: Cell. 1991 Jul 26;66(2):219-32
references.pmid: 1677316
references.citation: Neurology. 2005 Sep 13;65(5):681-9
references.pmid: 16157899
references.citation: Brain. 2003 Jan;126(Pt 1):134-51
references.pmid: 12477701
references.citation: Hum Genet. 1997 Jun;99(6):746-54
references.pmid: 9187667
references.citation: Nat Genet. 1998 Apr;18(4):382-4
references.pmid: 9537424
references.citation: Nat Genet. 1994 Mar;6(3):263-6
references.pmid: 8012388
references.citation: Neurology. 1987 Sep;37(9):1460-5
references.pmid: 3476859
references.citation: Exp Neurol. 1997 Nov;148(1):299-316
references.pmid: 9398473
references.citation: Trends Genet. 2001 Apr;17(4):221-8
references.pmid: 11275328
references.citation: Neurology. 1996 Apr;46(4):1133-7
references.pmid: 8780105
references.citation: Nat Genet. 2002 Jan;30(1):22-5
references.pmid: 11743580
references.citation: Neurobiol Dis. 2001 Aug;8(4):700-6
references.pmid: 11493034
references.citation: Am J Hum Genet. 2003 Mar;72(3):722-7
references.pmid: 12545426
references.citation: Neurology. 2001 Jan 9;56(1):100-3
references.pmid: 11148244
references.citation: J Cell Biol. 2003 Jan 20;160(2):189-200
references.pmid: 12527753
references.citation: J Cell Sci. 2002 Apr 15;115(Pt 8):1663-74
references.pmid: 11950885
references.citation: Cell. 2001 Jun 1;105(5):587-97
references.pmid: 11389829
references.citation: Cell. 1985 Mar;40(3):501-8
references.pmid: 2578885
references.citation: J Cell Biol. 1994 Aug;126(4):1089-97
references.pmid: 7519618
references.citation: Neurogenetics. 2002 Mar;4(1):1-15
references.pmid: 12030326
references.citation: Science. 1993 Dec 24;262(5142):2039-42
references.pmid: 8266101
references.citation: Hum Mutat. 2003 Jan;21(1):100
references.pmid: 12497641
references.citation: Ann N Y Acad Sci. 1999 Sep 14;883:366-82
references.pmid: 10586261
references.citation: Nat Rev Neurosci. 2003 Sep;4(9):714-26
references.pmid: 12951564
references.citation: Hum Mutat. 2000 Aug;16(2):177-8
references.pmid: 10923043
references.citation: Exp Mol Med. 2004 Feb 29;36(1):28-35
references.pmid: 15031668
references.citation: Brain. 2003 Mar;126(Pt 3):590-7
references.pmid: 12566280
references.citation: Nat Med. 2004 Apr;10(4):396-401
references.pmid: 15034573
references.citation: Neurology. 2002 Dec 24;59(12):1865-72
references.pmid: 12499475
references.citation: Acta Neuropathol. 1972;20(3):237-47
references.pmid: 5044004
references.citation: J Peripher Nerv Syst. 2001 Jun;6(2):79-84
references.pmid: 11446387
references.citation: J Biol Chem. 2000 Feb 18;275(7):4537-40
references.pmid: 10671475
references.citation: J Neurosci Res. 2001 Oct 1;66(1):23-36
references.pmid: 11598999
references.citation: Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4096-101
references.pmid: 12655064
references.citation: J Hum Genet. 2004;49(7):376-379
references.pmid: 15197604
references.citation: Nature. 1994 Oct 27;371(6500):796-9
references.pmid: 7935840
references.citation: Nat Genet. 2000 May;25(1):17-9
references.pmid: 10802647
references.citation: J Cell Biol. 1986 Sep;103(3):767-76
references.pmid: 2875078
references.citation: Nat Med. 2003 Dec;9(12):1533-7
references.pmid: 14608378
references.citation: J Cell Sci. 2005 Jul 15;118(Pt 14):3153-61
references.pmid: 15985463
references.citation: Brain. 1972;95(4):777-94
references.pmid: 4345910
references.citation: Hum Mutat. 2004 Aug;24(2):185-6
references.pmid: 15241803
references.citation: Cell. 1993 Jan 15;72(1):143-51
references.pmid: 8422677
references.citation: Nat Genet. 2004 Jun;36(6):597-601
references.pmid: 15122253
references.citation: Ann Neurol. 2006 Feb;59(2):276-81
references.pmid: 16437557
references.citation: Neurology. 1998 Apr;50(4):1074-82
references.pmid: 9566397
references.citation: Ann Neurol. 2002 Feb;51(2):190-201
references.pmid: 11835375
references.citation: Mol Membr Biol. 2002 Apr-Jun;19(2):121-36
references.pmid: 12126230
references.citation: Brain. 1980 Jun;103(2):259-80
references.pmid: 7397478
references.citation: J Neurosci. 1995 Dec;15(12):8281-94
references.pmid: 8613761
references.citation: Neuron. 1996 Sep;17(3):451-60
references.pmid: 8816708
references.citation: Hum Mol Genet. 1999 Jul;8(7):1245-51
references.pmid: 10369870
references.citation: Biol Chem. 2002 Feb;383(2):245-53
references.pmid: 11934262
references.citation: Science. 2004 Aug 6;305(5685):858-62
references.pmid: 15297672
references.citation: Ann N Y Acad Sci. 1999 Sep 14;883:47-55
references.pmid: 10586229
references.citation: Hum Mol Genet. 2001 Feb 15;10(4):415-21
references.pmid: 11157804
references.citation: Brain. 2004 Feb;127(Pt 2):371-84
references.pmid: 14711881
references.citation: Neuron. 1996 May;16(5):1049-60
references.pmid: 8630243
references.citation: Development. 1995 Dec;121(12):4265-73
references.pmid: 8575326
references.citation: Neurology. 2005 Jul 26;65(2):197-204
references.pmid: 16043786
references.citation: Neuron. 1994 Mar;12(3):497-508
references.pmid: 8155317
references.citation: J Biol Chem. 2001 Jul 20;276(29):26753-61
references.pmid: 11342557
references.citation: Hum Mutat. 1998;12(1):59-68
references.pmid: 9633821
references.citation: Ann Neurol. 1986 Oct;20(4):527-32
references.pmid: 3024556
references.citation: Hum Mutat. 2000;15(4):340-7
references.pmid: 10737979
references.citation: Curr Biol. 2001 Oct 30;11(21):1680-5
references.pmid: 11696325
references.citation: Hum Mutat. 2002 Nov;20(5):392-8
references.pmid: 12402337
references.citation: Nat Genet. 1993 Nov;5(3):269-73
references.pmid: 8275092
references.citation: Neurology. 1997 Feb;48(2):450-2
references.pmid: 9040737
references.citation: Muscle Nerve. 2001 Apr;24(4):456-66
references.pmid: 11268016
references.citation: Neurology. 2004 Apr 27;62(8):1429-31
references.pmid: 15111691
references.citation: J Neurol Sci. 1993 Jun;116(2):176-84
references.pmid: 8393091
references.citation: J Biol Chem. 2001 Jun 22;276(25):23065-76
references.pmid: 11274176
references.citation: Nat Genet. 2002 Jan;30(1):21-2
references.pmid: 11743579
references.citation: Neurology. 1994 Dec;44(12):2250-2
references.pmid: 7991107
references.citation: Brain. 1990 Oct;113 ( Pt 5):1511-25
references.pmid: 2245309
references.citation: Cytogenet Cell Genet. 1994;65(4):261-4
references.pmid: 7903071
references.citation: Hum Mol Genet. 2003 Feb 1;12(3):349-56
references.pmid: 12554688
references.citation: Brain Res. 2000 Dec 1;885(1):32-44
references.pmid: 11121527
references.citation: Lancet Neurol. 2002 Jun;1(2):110-8
references.pmid: 12849515
references.citation: Ann Neurol. 2001 Feb;49(2):245-9
references.pmid: 11220745
references.citation: Am J Hum Genet. 2003 May;72(5):1293-9
references.pmid: 12690580
references.citation: Nat Genet. 2000 Nov;26(3):370-4
references.pmid: 11062483
references.citation: Nat Genet. 2004 May;36(5):449-51
references.pmid: 15064763
references.citation: Nat Genet. 2004 Jun;36(6):602-6
references.pmid: 15122254
references.citation: J Neurosci Res. 2000 Jun 15;60(6):714-24
references.pmid: 10861783
references.citation: Neurology. 1999 Jun 10;52(9):1827-32
references.pmid: 10371530
references.citation: Nat Genet. 2004 Jun;36(6):547-8
references.pmid: 15167925
references.citation: Genet Med. 2006 Feb;8(2):86-92
references.pmid: 16481890
references.citation: Am J Hum Genet. 2003 Nov;73(5):1106-19
references.pmid: 14574644
references.citation: Hum Genet. 2005 Jan;116(1-2):23-7
references.pmid: 15549395
references.citation: Hosp Pract (1995). 1997 May 15;32(5):83-4, 89-91, 94-5 passim
references.pmid: 9153141
references.citation: J Biol Chem. 1998 Feb 27;273(9):5101-8
references.pmid: 9478962
references.citation: Neurology. 2004 May 11;62(9):1522-5
references.pmid: 15136675
references.citation: Hum Mol Genet. 1996 May;5(5):563-9
references.pmid: 8733121
references.citation: Hum Mutat. 2001;18(1):32-41
references.pmid: 11438991