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Volumn 52, Issue 10, 2015, Pages 681-690

Charcot-Marie-Tooth diseases: An update and some new proposals for the classification

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISEASE CLASSIFICATION; DISEASE COURSE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE CELL; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SCHWANN CELL; CHARCOT-MARIE-TOOTH DISEASE; CLASSIFICATION; GENE EXPRESSION; GENETIC SCREENING; GENETICS; METABOLISM; RETROSPECTIVE STUDY;

EID: 84945464899     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103272     Document Type: Article
Times cited : (80)

References (70)
  • 1
    • 84945460928 scopus 로고    scopus 로고
    • Other hereditary neuropathies.
    • Oxford: Wiley Blackwell, Vallat JM, Weis J, Gray F, Keohane K, eds.
    • Mathis S, Tazir M, Vallat JM. Other hereditary neuropathies. In: Vallat JM, Weis J, Gray F, Keohane K, eds. Peripheral nerve disorders: pathology & genetics. Oxford: Wiley Blackwell, 2014:158-66.
    • (2014) Peripheral nerve disorders: pathology & genetics. , pp. 158-166
    • Mathis, S.1    Tazir, M.2    Vallat, J.M.3
  • 2
    • 84882866259 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features.
    • Dyck P, Thomas P, eds. Philadelphia: Elsevier Saunders
    • Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck P, Thomas P, eds. Peripheral neuropathy, 4th ed. Philadelphia: Elsevier Saunders, 2005:1623-58.
    • (2005) Peripheral neuropathy, 4th ed. , pp. 1623-1658
    • Shy, M.E.1    Lupski, J.R.2    Chance, P.F.3    Klein, C.J.4    Dyck, P.J.5
  • 5
    • 0034161946 scopus 로고    scopus 로고
    • Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies
    • Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 2000;10:206-8.
    • (2000) Neuromuscul Disord , vol.10 , pp. 206-208
    • Dubourg, O.1    Mouton, P.2    Brice, A.3    LeGuern, E.4    Bouche, P.5
  • 9
    • 84857036952 scopus 로고    scopus 로고
    • Mechanisms of disease in hereditary sensory and autonomic neuropathies
    • Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 2012;8:73-85.
    • (2012) Nat Rev Neurol , vol.8 , pp. 73-85
    • Rotthier, A.1    Baets, J.2    Timmerman, V.3    Janssens, K.4
  • 10
    • 0002896804 scopus 로고
    • Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains
    • Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886;6:96-138.
    • (1886) Rev Med , vol.6 , pp. 96-138
    • Charcot, J.M.1    Marie, P.2
  • 11
    • 0003828231 scopus 로고
    • The peroneal type of progressive muscular atrophy.
    • London: H. K. Lewis
    • Tooth HH. The peroneal type of progressive muscular atrophy. London: H. K. Lewis, 1886.
    • (1886)
    • Tooth, H.H.1
  • 12
    • 0026809892 scopus 로고
    • Charcot-Marie-Tooth disease from first description to genetic localization of mutations
    • Sturtz FG, Chazot G, Vandenberghe AJ. Charcot-Marie-Tooth disease from first description to genetic localization of mutations. J Hist Neurosci 1992;1:47-58.
    • (1992) J Hist Neurosci , vol.1 , pp. 47-58
    • Sturtz, F.G.1    Chazot, G.2    Vandenberghe, A.J.3
  • 13
    • 0002649152 scopus 로고
    • Sur la névrite interstitielle, hypertrophique et progressive de l'enfant
    • Dejerine J, Sottas J. Sur la névrite interstitielle, hypertrophique et progressive de l'enfant. C R Soc Biol 1893;45:63-96.
    • (1893) C R Soc Biol , vol.45 , pp. 63-96
    • Dejerine, J.1    Sottas, J.2
  • 14
    • 0001397047 scopus 로고
    • A propos de la dystasie aréflexique héréditaire, Contribution à l'étude de la genèse des maladies familiales et de leur parenté entre elles.
    • Roussy G, Levy G. A propos de la dystasie aréflexique héréditaire. Contribution à l'étude de la genèse des maladies familiales et de leur parenté entre elles. Rev Neurol (Paris) 1934;2:763-73.
    • (1934) Rev Neurol (Paris) , vol.2 , pp. 763-773
    • Roussy, G.1    Levy, G.2
  • 15
    • 0036842205 scopus 로고    scopus 로고
    • Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy
    • Plante-Bordeneuve V, Said G. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy. Muscle Nerve 2002;26:608-21.
    • (2002) Muscle Nerve , vol.26 , pp. 608-621
    • Plante-Bordeneuve, V.1    Said, G.2
  • 16
    • 84945461236 scopus 로고    scopus 로고
    • Autosomal dominant demyelinating Charcot-Marie-Tooth (CMT1) neuropathies.
    • Vallat JM, Weis J, Gray F, Keohane K, eds. Hoboken: John Wiley & Sons
    • Vallat JM, Mathis S. Autosomal dominant demyelinating Charcot-Marie-Tooth (CMT1) neuropathies. In: Vallat JM, Weis J, Gray F, Keohane K, eds. Peripheral nerve disorders: pathology & genetics. Hoboken: John Wiley & Sons, 2014:62-71.
    • (2014) Peripheral nerve disorders: pathology & genetics. , pp. 62-71
    • Vallat, J.M.1    Mathis, S.2
  • 17
    • 84928328716 scopus 로고    scopus 로고
    • Charcot Marie Tooth disease (CMT): historical perspectives and evolution
    • Kazamel M, Boes CJ. Charcot Marie Tooth disease (CMT): historical perspectives and evolution. J Neurol 2014;262:801-5.
    • (2014) J Neurol , vol.262 , pp. 801-805
    • Kazamel, M.1    Boes, C.J.2
  • 19
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.
    • Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18.
    • (1968) Arch Neurol , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 21
    • 84929966254 scopus 로고    scopus 로고
    • Demyelinating CMT-what's known, what's new and what's in store?
    • Brennan KM, Bai Y, Shy ME. Demyelinating CMT-what's known, what's new and what's in store? Neurosci Lett 2015;596-14-26.
    • (2015) Neurosci Lett , vol.596 , pp. 14-26
    • Brennan, K.M.1    Bai, Y.2    Shy, M.E.3
  • 23
    • 0017713471 scopus 로고
    • The peroneal muscular atrophy syndrom, Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies.
    • Madrid R, Bradley WG, Davis CJ. The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci 1977;32:91-122.
    • (1977) J Neurol Sci , vol.32 , pp. 91-122
    • Madrid, R.1    Bradley, W.G.2    Davis, C.J.3
  • 24
    • 0001768884 scopus 로고
    • Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons.
    • Dyck PJ, Thomas PK, Lambert EH, eds. Philadelphia: WB Saunders
    • Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, eds. Peripheral neuropathy. Philadelphia: WB Saunders, 1975:1600-55.
    • (1975) Peripheral neuropathy. , pp. 1600-1655
    • Dyck, P.J.1
  • 26
    • 84920026337 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update
    • Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM. Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. J Neurol Sci 2014;347:14-22.
    • (2014) J Neurol Sci , vol.347 , pp. 14-22
    • Tazir, M.1    Hamadouche, T.2    Nouioua, S.3    Mathis, S.4    Vallat, J.M.5
  • 29
    • 84925864114 scopus 로고    scopus 로고
    • Therapeutic options in Charcot-Marie-Tooth diseases
    • Mathis S, Magy L, Vallat JM. Therapeutic options in Charcot-Marie-Tooth diseases. Expert Rev Neurother 2015;15:355-66.
    • (2015) Expert Rev Neurother , vol.15 , pp. 355-366
    • Mathis, S.1    Magy, L.2    Vallat, J.M.3
  • 34
    • 84885668385 scopus 로고    scopus 로고
    • Clinical implications of genetic advances in Charcot-Marie-Tooth disease
    • Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013;9:562-71.
    • (2013) Nat Rev Neurol , vol.9 , pp. 562-571
    • Rossor, A.M.1    Polke, J.M.2    Houlden, H.3    Reilly, M.M.4
  • 36
    • 0032569930 scopus 로고    scopus 로고
    • Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15
    • Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 1998;161:23-8.
    • (1998) J Neurol Sci , vol.161 , pp. 23-28
    • Sambuughin, N.1    Sivakumar, K.2    Selenge, B.3    Lee, H.S.4    Friedlich, D.5    Baasanjav, D.6    Dalakas, M.C.7    Goldfarb, L.G.8
  • 37
    • 82455162395 scopus 로고    scopus 로고
    • Hereditary peripheral neuropathies of childhood: an overview for clinicians
    • Wilmshurst JM, Ouvrier R. Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul Disord 2011;21:763-75.
    • (2011) Neuromuscul Disord , vol.21 , pp. 763-775
    • Wilmshurst, J.M.1    Ouvrier, R.2
  • 38
    • 16444374003 scopus 로고    scopus 로고
    • Hereditary peripheral neuropathies of childhood
    • Ryan MM, Ouvrier R. Hereditary peripheral neuropathies of childhood. Curr Opin Neurol 2005;18:105-10.
    • (2005) Curr Opin Neurol , vol.18 , pp. 105-110
    • Ryan, M.M.1    Ouvrier, R.2
  • 44
    • 0032893517 scopus 로고    scopus 로고
    • Congenital hypomyelinating neuropathy: two patients with long-term follow-up
    • Phillips JP, Warner LE, Lupski JR, Garg BP. Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol 1999;20:226-32.
    • (1999) Pediatr Neurol , vol.20 , pp. 226-232
    • Phillips, J.P.1    Warner, L.E.2    Lupski, J.R.3    Garg, B.P.4
  • 46
    • 0023944411 scopus 로고
    • Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita
    • Charnas L, Trapp B, Griffin J. Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 1988;38:966-74.
    • (1988) Neurology , vol.38 , pp. 966-974
    • Charnas, L.1    Trapp, B.2    Griffin, J.3
  • 50
    • 0019519135 scopus 로고
    • Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood
    • Ouvrier RA, McLeod JG, Morgan GJ, Wise GA, Conchin TE. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. J Neurol Sci 1981;51:181-97.
    • (1981) J Neurol Sci , vol.51 , pp. 181-197
    • Ouvrier, R.A.1    McLeod, J.G.2    Morgan, G.J.3    Wise, G.A.4    Conchin, T.E.5
  • 51
    • 73549086741 scopus 로고    scopus 로고
    • A novel recessive Neflmutation causes a severe, early-onset axonal neuropathy
    • Yum SW, Zhang J, Mo K, Li J, Scherer SS. A novel recessive Neflmutation causes a severe, early-onset axonal neuropathy. Ann Neurol 2009;66:759-70.
    • (2009) Ann Neurol , vol.66 , pp. 759-770
    • Yum, S.W.1    Zhang, J.2    Mo, K.3    Li, J.4    Scherer, S.S.5
  • 58
    • 84919473296 scopus 로고    scopus 로고
    • A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis
    • Park HJ, Kim HJ, Hong YB, Nam SH, Chung KW, Choi BO. A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. J Peripher Nerv Syst 2014;19:175-9.
    • (2014) J Peripher Nerv Syst , vol.19 , pp. 175-179
    • Park, H.J.1    Kim, H.J.2    Hong, Y.B.3    Nam, S.H.4    Chung, K.W.5    Choi, B.O.6
  • 59
    • 84870782431 scopus 로고    scopus 로고
    • Molecular genetics of charcot-marie-tooth disease: from genes to genomes
    • Azzedine H, Senderek J, Rivolta C, Chrast R. Molecular genetics of charcot-marie-tooth disease: from genes to genomes. Mol Syndromol 2012;3:204-14.
    • (2012) Mol Syndromol , vol.3 , pp. 204-214
    • Azzedine, H.1    Senderek, J.2    Rivolta, C.3    Chrast, R.4
  • 60
    • 19244386839 scopus 로고    scopus 로고
    • Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses
    • Hahn JS, Henry M, Hudgins L, Madan A. Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses. Pediatrics 2001;108:E95.
    • (2001) Pediatrics , vol.108 , pp. E95
    • Hahn, J.S.1    Henry, M.2    Hudgins, L.3    Madan, A.4
  • 61
    • 0038504662 scopus 로고    scopus 로고
    • Dominantly inherited peripheral neuropathies
    • Vallat JM. Dominantly inherited peripheral neuropathies. J Neuropathol Exp Neurol 2003;62:699-714.
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 699-714
    • Vallat, J.M.1
  • 63
    • 33947221039 scopus 로고    scopus 로고
    • Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance
    • Vallat JM, Magy L, Lagrange E, Sturtz F, Magdelaine C, Grid D, Tazir M. Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance. Acta Neuropathol 2007;113:443-9.
    • (2007) Acta Neuropathol , vol.113 , pp. 443-449
    • Vallat, J.M.1    Magy, L.2    Lagrange, E.3    Sturtz, F.4    Magdelaine, C.5    Grid, D.6    Tazir, M.7
  • 66
    • 84879394688 scopus 로고    scopus 로고
    • Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes
    • Tazir M, Bellatache M, Nouioua S, Vallat JM. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Syst 2013;18:113-29.
    • (2013) J Peripher Nerv Syst , vol.18 , pp. 113-129
    • Tazir, M.1    Bellatache, M.2    Nouioua, S.3    Vallat, J.M.4
  • 68
    • 84863864231 scopus 로고    scopus 로고
    • A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
    • Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations. Neuromuscul Disord 2012;22:735-41.
    • (2012) Neuromuscul Disord , vol.22 , pp. 735-741
    • Vital, A.1    Latour, P.2    Sole, G.3    Ferrer, X.4    Rouanet, M.5    Tison, F.6    Vital, C.7    Goizet, C.8
  • 69
    • 30344448848 scopus 로고    scopus 로고
    • Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes
    • Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD. Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 2006;63:112-17.
    • (2006) Arch Neurol , vol.63 , pp. 112-117
    • Hodapp, J.A.1    Carter, G.T.2    Lipe, H.P.3    Michelson, S.J.4    Kraft, G.H.5    Bird, T.D.6


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