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Volumn 27, Issue 5, 2014, Pages 532-540

Recent advances in Charcot-Marie-Tooth disease

Author keywords

Charcot Marie Tooth disease; Clinical and molecular genetics; Inherited peripheral neuropathy; Next generation sequencing; Peripheral nervous system

Indexed keywords

ASCORBIC ACID; CURCUMIN; HISTONE DEACETYLASE 6; HISTONE DEACETYLASE INHIBITOR; LONAPRISAN;

EID: 84925854702     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0000000000000131     Document Type: Review
Times cited : (65)

References (62)
  • 2
    • 33745278558 scopus 로고    scopus 로고
    • Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
    • Pareyson D, Scaioli V, Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8:3-22.
    • (2006) Neuromolecular Med , vol.8 , pp. 3-22
    • Pareyson, D.1    Scaioli, V.2    Laura, M.3
  • 3
    • 67649390851 scopus 로고    scopus 로고
    • Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
    • Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667.
    • (2009) Lancet Neurol , vol.8 , pp. 654-667
    • Pareyson, D.1    Marchesi, C.2
  • 4
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 5
    • 33745243384 scopus 로고    scopus 로고
    • Neuropathology of Charcot-Marie-Tooth and related disorders
    • Schröder JM. Neuropathology of Charcot-Marie-Tooth and related disorders. Neuromolecular Med 2006;8:23-42.
    • (2006) Neuromolecular Med , vol.8 , pp. 23-42
    • Schröder, J.M.1
  • 6
    • 60549113735 scopus 로고    scopus 로고
    • Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)
    • England JD, Gronseth GS, Franklin G, et al. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve 2009;39:116-125.
    • (2009) Muscle Nerve , vol.39 , pp. 116-125
    • England, J.D.1    Gronseth, G.S.2    Franklin, G.3
  • 7
    • 79551488413 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease subtypes and genetic testing strategies
    • Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33.
    • (2011) Ann Neurol , vol.69 , pp. 22-33
    • Saporta, A.S.1    Sottile, S.L.2    Miller, L.J.3
  • 8
    • 33745250497 scopus 로고    scopus 로고
    • Intermediate forms of Charcot-Marie-Tooth neuropathy: A review
    • Nicholson G, Myers S. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Neuromolecular Med 2006;8:123-130.
    • (2006) Neuromolecular Med , vol.8 , pp. 123-130
    • Nicholson, G.1    Myers, S.2
  • 9
    • 33745234241 scopus 로고    scopus 로고
    • Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
    • Szigeti K, Nelis E, Lupski JR. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med 2006;8:243-254.
    • (2006) Neuromolecular Med , vol.8 , pp. 243-254
    • Szigeti, K.1    Nelis, E.2    Lupski, J.R.3
  • 10
    • 33745256043 scopus 로고    scopus 로고
    • Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
    • Dubourg O, Azzedine H, Verny C, et al. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8:75-86.
    • (2006) Neuromolecular Med , vol.8 , pp. 75-86
    • Dubourg, O.1    Azzedine, H.2    Verny, C.3
  • 11
    • 84867555255 scopus 로고    scopus 로고
    • Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
    • Pitceathly RD, Murphy SM, Cottenie E, et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology 2012;79:1145-1154.
    • (2012) Neurology , vol.79 , pp. 1145-1154
    • Pitceathly, R.D.1    Murphy, S.M.2    Cottenie, E.3
  • 12
    • 80052927465 scopus 로고    scopus 로고
    • Genetic spectrum of hereditary neuropathies with onset in the first year of life
    • Baets J, Deconinck T, De Vriendt E, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 2011;134:2664-2676.
    • (2011) Brain , vol.134 , pp. 2664-2676
    • Baets, J.1    Deconinck, T.2    De Vriendt, E.3
  • 13
    • 10744221158 scopus 로고    scopus 로고
    • Phenotypic clustering in MPZ mutations
    • Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004;127:371-384.
    • (2004) Brain , vol.127 , pp. 371-384
    • Shy, M.E.1    Jani, A.2    Krajewski, K.3
  • 14
    • 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;9:562-571. An exhaustive overview of the current genetic spectrum of all forms of inherited peripheral neuropathies and implications for genetic testing in a clinical context.
    • (2013) Nat Rev Neurol , vol.9 , pp. 562-571
    • Rossor, A.M.1    Polke, J.M.2    Houlden, H.3    Reilly, M.M.4
  • 15
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN collaborative research group
    • Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN collaborative research group. Neuromuscul Disord 1991;1:93-97.
    • (1991) Neuromuscul Disord , vol.1 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 16
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, De Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    De Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 17
    • 84893146010 scopus 로고    scopus 로고
    • Genetics of Charcot-Marie-Tooth (CMT) disease withinthe frame ofthe human genome project success
    • Timmerman V, Strickland AV, Zuchner S. Genetics of Charcot-Marie-Tooth (CMT) disease withinthe frame ofthe human genome project success. Genes (Basel) 2014;5:13-32.
    • (2014) Genes (Basel) , vol.5 , pp. 13-32
    • Timmerman, V.1    Strickland, A.V.2    Zuchner, S.3
  • 18
    • 84881282144 scopus 로고    scopus 로고
    • SETbinding factor1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
    • Nakhro K, Park JM, Hong YB, et al. SETbinding factor1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology 2013;81:165-173.
    • (2013) Neurology , vol.81 , pp. 165-173
    • Nakhro, K.1    Park, J.M.2    Hong, Y.B.3
  • 19
    • 84870888232 scopus 로고    scopus 로고
    • A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth Disease type 2 in a large Chinese pedigree
    • Xu WY, Gu MM, Sun LH, et al. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth Disease type 2 in a large Chinese pedigree. Am J Hum Genet 2012;91:1088-1094.
    • (2012) Am J Hum Genet , vol.91 , pp. 1088-1094
    • Xu, W.Y.1    Gu, M.M.2    Sun, L.H.3
  • 20
    • 84864946347 scopus 로고    scopus 로고
    • The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement
    • Ishiura H, Sako W, Yoshida M, et al. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet 2012;91:320-329.
    • (2012) Am J Hum Genet , vol.91 , pp. 320-329
    • Ishiura, H.1    Sako, W.2    Yoshida, M.3
  • 21
    • 84875531545 scopus 로고    scopus 로고
    • Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
    • Beetz C, Johnson A, Schuh AL, et al. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A 2013;110:5091-5096.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 5091-5096
    • Beetz, C.1    Johnson, A.2    Schuh, A.L.3
  • 22
    • 84885586767 scopus 로고    scopus 로고
    • Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with lateonset CMT2
    • Gonzalez M, McLaughlin H, Houlden H, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with lateonset CMT2. J Neurol Neurosurg Psychiatry 2013;84:1247-1249.
    • (2013) J Neurol Neurosurg Psychiatry , vol.84 , pp. 1247-1249
    • Gonzalez, M.1    McLaughlin, H.2    Houlden, H.3
  • 23
    • 84871608495 scopus 로고    scopus 로고
    • A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
    • Vester A, Velez-Ruiz G, McLaughlin HM, et al. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat 2013;34:191-199.
    • (2013) Hum Mutat , vol.34 , pp. 191-199
    • Vester, A.1    Velez-Ruiz, G.2    McLaughlin, H.M.3
  • 24
    • 84893041011 scopus 로고    scopus 로고
    • Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
    • Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014;343:506-511. A highly interesting and large-scale study showing the sheer strength of NGS technologies, identifying no fewer than 18 novel genes of hereditary spastic paraplegia in a single study.
    • (2014) Science , vol.343 , pp. 506-511
    • Novarino, G.1    Fenstermaker, A.G.2    Zaki, M.S.3
  • 25
    • 84866840027 scopus 로고    scopus 로고
    • Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
    • Zimon M, Baets J, Almeida-Souza L, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 2012;44:1080-1083.
    • (2012) Nat Genet , vol.44 , pp. 1080-1083
    • Zimon, M.1    Baets, J.2    Almeida-Souza, L.3
  • 26
    • 84880315534 scopus 로고    scopus 로고
    • Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
    • Ylikallio E, Poyhonen R, Zimon M, et al. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet 2013;22:2975-2983.
    • (2013) Hum Mol Genet , vol.22 , pp. 2975-2983
    • Ylikallio, E.1    Poyhonen, R.2    Zimon, M.3
  • 27
    • 84870926172 scopus 로고    scopus 로고
    • Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
    • Rinaldi C, Grunseich C, Sevrioukova IF, et al. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2012;91:1095-1102.
    • (2012) Am J Hum Genet , vol.91 , pp. 1095-1102
    • Rinaldi, C.1    Grunseich, C.2    Sevrioukova, I.F.3
  • 28
    • 84875267467 scopus 로고    scopus 로고
    • A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is causedbymutationsin the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
    • Kennerson ML, Yiu EM, Chuang DT, et al. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is causedbymutationsin the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Genet 2013;22:1404-1416.
    • (2013) Hum Mol Genet , vol.22 , pp. 1404-1416
    • Kennerson, M.L.1    Yiu, E.M.2    Chuang, D.T.3
  • 29
    • 84876410917 scopus 로고    scopus 로고
    • Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease
    • Soong BW, Huang YH, Tsai PC, et al. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am J Hum Genet 2013;92:422-430.
    • (2013) Am J Hum Genet , vol.92 , pp. 422-430
    • Soong, B.W.1    Huang, Y.H.2    Tsai, P.C.3
  • 30
    • 84884707420 scopus 로고    scopus 로고
    • PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease
    • Azzedine H, Zavadakova P, Plante-Bordeneuve V, et al. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet 2013;22:4224-4232.
    • (2013) Hum Mol Genet , vol.22 , pp. 4224-4232
    • Azzedine, H.1    Zavadakova, P.2    Plante-Bordeneuve, V.3
  • 31
    • 84898722702 scopus 로고    scopus 로고
    • Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
    • Baulac S, Lenk GM, Dufresnois B, et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology 2014;82:1068-1075.
    • (2014) Neurology , vol.82 , pp. 1068-1075
    • Baulac, S.1    Lenk, G.M.2    Dufresnois, B.3
  • 32
    • 84877577668 scopus 로고    scopus 로고
    • Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
    • Campeau PM, Lenk GM, Lu JT, et al. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 2013;92:781-791.
    • (2013) Am J Hum Genet , vol.92 , pp. 781-791
    • Campeau, P.M.1    Lenk, G.M.2    Lu, J.T.3
  • 33
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl JMed 2010;362:1181-1191.
    • (2010) N Engl JMed , vol.362 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 34
    • 79953286746 scopus 로고    scopus 로고
    • Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family
    • Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol 2011;69:464-470.
    • (2011) Ann Neurol , vol.69 , pp. 464-470
    • Montenegro, G.1    Powell, E.2    Huang, J.3
  • 35
    • 84896141625 scopus 로고    scopus 로고
    • Genetic testing practices for Charcot-Marie-Tooth type 1A disease
    • Tousignant R, Trepanier A, Shy ME, Siskind CE. Genetic testing practices for Charcot-Marie-Tooth type 1A disease. Muscle Nerve 2014;49:478-482.
    • (2014) Muscle Nerve , vol.49 , pp. 478-482
    • Tousignant, R.1    Trepanier, A.2    Shy, M.E.3    Siskind, C.E.4
  • 36
    • 84895417507 scopus 로고    scopus 로고
    • Application of whole exome sequencing in undiagnosed inherited polyneuropathies
    • Klein CJ, Middha S, Duan X, et al. Application of whole exome sequencing in undiagnosed inherited polyneuropathies. J Neurol Neurosurg Psychiatry 2014. [Epub ahead of print] A very recent in-depth study showing the systematic use of WES in genetically undefined inherited peripheral neuropathies. In addition, the authors give a critical view on the future prospects for these techniques.
    • (2014) J Neurol Neurosurg Psychiatry
    • Klein, C.J.1    Middha, S.2    Duan, X.3
  • 37
    • 84901940918 scopus 로고    scopus 로고
    • Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges
    • Schabhuttl M, Wieland T, Senderek J, et al. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014;261:970-982. Another study applying WES to genetically unresolved inherited peripheral neuropathies, nicely illustrating several issues of data analysis and unexpected findings in unusual phenotypes.
    • (2014) J Neurol , vol.261 , pp. 970-982
    • Schabhuttl, M.1    Wieland, T.2    Senderek, J.3
  • 38
    • 79957819197 scopus 로고    scopus 로고
    • Inherited peripheral neuropathies: A myriad of genes and complex phenotypes
    • Baets J, Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain 2011;134:1587-1590.
    • (2011) Brain , vol.134 , pp. 1587-1590
    • Baets, J.1    Timmerman, V.2
  • 39
    • 84876336542 scopus 로고    scopus 로고
    • DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss
    • Klein CJ, Bird T, Ertekin-Taner N, et al. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology 2013;80:824-828.
    • (2013) Neurology , vol.80 , pp. 824-828
    • Klein, C.J.1    Bird, T.2    Ertekin-Taner, N.3
  • 40
    • 84894541209 scopus 로고    scopus 로고
    • Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
    • Kornak U, Mademan I, Schinke M, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 2014;137:683-692.
    • (2014) Brain , vol.137 , pp. 683-692
    • Kornak, U.1    Mademan, I.2    Schinke, M.3
  • 41
    • 84879798017 scopus 로고    scopus 로고
    • Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias
    • Timmerman V, Clowes VE, Reid E. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Exp Neurol 2013;246:14-25. This systematic literature overview explores the growing areas of genetic, cellbiological and clinical overlap between two seemingly distinct groups of 'long axonopathies', namely the hereditary spastic paraplegias and the inherited peripheral neuropathies.
    • (2013) Exp Neurol , vol.246 , pp. 14-25
    • Timmerman, V.1    Clowes, V.E.2    Reid, E.3
  • 42
    • 79957864036 scopus 로고    scopus 로고
    • Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
    • Auer-Grumbach M, Weger M, Fink-Puches R, et al. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain 2011;134:1839-1852.
    • (2011) Brain , vol.134 , pp. 1839-1852
    • Auer-Grumbach, M.1    Weger, M.2    Fink-Puches, R.3
  • 43
    • 84891909505 scopus 로고    scopus 로고
    • De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
    • Mademan I, Deconinck T, Dinopoulos A, et al. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology 2013;81:1953-1958. Recent expansion of the genetic and clinical spectrum of INF2-associated CMT and focal segmental glomerulosclerosis.
    • (2013) Neurology , vol.81 , pp. 1953-1958
    • Mademan, I.1    Deconinck, T.2    Dinopoulos, A.3
  • 44
    • 79551474508 scopus 로고    scopus 로고
    • The death panel for Charcot-Marie-Tooth panels
    • Amato AA, Reilly MM. The death panel for Charcot-Marie-Tooth panels. Ann Neurol 2011;69:1-4.
    • (2011) Ann Neurol , vol.69 , pp. 1-4
    • Amato, A.A.1    Reilly, M.M.2
  • 45
    • 72849110557 scopus 로고    scopus 로고
    • Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis
    • Liebaers I, Desmyttere S, Verpoest W, et al. Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum Reprod 2010;25:275-282.
    • (2010) Hum Reprod , vol.25 , pp. 275-282
    • Liebaers, I.1    Desmyttere, S.2    Verpoest, W.3
  • 46
    • 1942422646 scopus 로고    scopus 로고
    • Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
    • Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 2004;10:396-401.
    • (2004) Nat Med , vol.10 , pp. 396-401
    • Passage, E.1    Norreel, J.C.2    Noack-Fraissignes, P.3
  • 47
    • 65549159213 scopus 로고    scopus 로고
    • Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: A randomised, double-blind, placebo-controlled, safety and efficacy trial
    • Burns J, Ouvrier RA, Yiu EM, et al. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol 2009;8:537-544.
    • (2009) Lancet Neurol , vol.8 , pp. 537-544
    • Burns, J.1    Ouvrier, R.A.2    Yiu, E.M.3
  • 48
    • 84882375832 scopus 로고    scopus 로고
    • High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: Results of a randomized, double-masked, controlled trial
    • Lewis RA, McDermott MP, Herrmann DN, et al., Muscle Study Group. High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol 2013;70:981-987. The most recently reported trial, studying the effects of high-dose ascorbic acid on disease severity and progression during a 2-year trial in CMT1A patients.
    • (2013) JAMA Neurol , vol.70 , pp. 981-987
    • Lewis, R.A.1    McDermott, M.P.2    Herrmann, D.N.3
  • 49
    • 72149100190 scopus 로고    scopus 로고
    • Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: A multicentre, randomised, doubleblind, placebo-controlled trial
    • Micallef J, Attarian S, Dubourg O, et al. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, doubleblind, placebo-controlled trial. Lancet Neurol 2009;8:1103-1110.
    • (2009) Lancet Neurol , vol.8 , pp. 1103-1110
    • Micallef, J.1    Attarian, S.2    Dubourg, O.3
  • 50
    • 72149091751 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Is ascorbic acid effective?
    • Pareyson D, Solari A. Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? Lancet Neurol 2009;8:1075-1077.
    • (2009) Lancet Neurol , vol.8 , pp. 1075-1077
    • Pareyson, D.1    Solari, A.2
  • 51
    • 79952736703 scopus 로고    scopus 로고
    • CMT-TRIAAL, CMT-TRAUK. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): A double-blind randomised trial
    • Pareyson D, Reilly MM, Schenone A, et al., CMT-TRIAAL, CMT-TRAUK. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 2011;10:320-328.
    • (2011) Lancet Neurol , vol.10 , pp. 320-328
    • Pareyson, D.1    Reilly, M.M.2    Schenone, A.3
  • 52
    • 16844381836 scopus 로고    scopus 로고
    • Reliability and validity of the CMT neuropathy score as a measure of disability
    • Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005;64:1209-1214.
    • (2005) Neurology , vol.64 , pp. 1209-1214
    • Shy, M.E.1    Blake, J.2    Krajewski, K.3
  • 53
    • 39749139561 scopus 로고    scopus 로고
    • Neuropathy progression in Charcot-Marie-Tooth disease type 1A
    • Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology 2008;70:378-383.
    • (2008) Neurology , vol.70 , pp. 378-383
    • Shy, M.E.1    Chen, L.2    Swan, E.R.3
  • 54
    • 78649289706 scopus 로고    scopus 로고
    • Utility of Charcot-Marie-Tooth neuropathy score in children with type 1A disease
    • Haberlova J, Seeman P. Utility of Charcot-Marie-Tooth neuropathy score in children with type 1A disease. Pediatr Neurol 2010;43:407-410.
    • (2010) Pediatr Neurol , vol.43 , pp. 407-410
    • Haberlova, J.1    Seeman, P.2
  • 55
    • 84879398575 scopus 로고    scopus 로고
    • Transitioning outcome measures: Relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease
    • Burns J, Menezes M, Finkel RS, et al. Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2013;18:177-180.
    • (2013) J Peripher Nerv Syst , vol.18 , pp. 177-180
    • Burns, J.1    Menezes, M.2    Finkel, R.S.3
  • 56
    • 80055011529 scopus 로고    scopus 로고
    • Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
    • Murphy SM, Herrmann DN, McDermott MP, et al. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2011;16:191-198.
    • (2011) J Peripher Nerv Syst , vol.16 , pp. 191-198
    • Murphy, S.M.1    Herrmann, D.N.2    McDermott, M.P.3
  • 57
    • 84856712027 scopus 로고    scopus 로고
    • A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
    • Fledrich R, Schlotter-Weigel B, Schnizer TJ, et al. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain 2012;135:72-87.
    • (2012) Brain , vol.135 , pp. 72-87
    • Fledrich, R.1    Schlotter-Weigel, B.2    Schnizer, T.J.3
  • 58
    • 0347185347 scopus 로고    scopus 로고
    • Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
    • Sereda MW, Meyer Zu Horste G, Suter U, et al. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003;9:1533-1537.
    • (2003) Nat Med , vol.9 , pp. 1533-1537
    • Sereda, M.W.1    Meyer Zu Horste, G.2    Suter, U.3
  • 59
    • 84898012507 scopus 로고    scopus 로고
    • Progesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model
    • Prukop T, Epplen DB, Nientiedt T, et al. Progesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model. Am J Hum Genet 2014;94:533-546. A very recent study using lonaprisan, a progesterone antagonist in Pelizaeus-Merzbacher disease. This myelin disorder of the central nervous system has many similarities with CMT1A. An analogue, onapristone, was previously shown to be beneficial in a CMT1A rat model, but this progesterone antagonist has an unfavorable safety profile in humans.
    • (2014) Am J Hum Genet , vol.94 , pp. 533-546
    • Prukop, T.1    Epplen, D.B.2    Nientiedt, T.3
  • 60
    • 34548219064 scopus 로고    scopus 로고
    • Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: A potential therapy for inherited neuropathy
    • Khajavi M, Shiga K, Wiszniewski W, et al. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 2007;81:438-453.
    • (2007) Am J Hum Genet , vol.81 , pp. 438-453
    • Khajavi, M.1    Shiga, K.2    Wiszniewski, W.3
  • 61
    • 84871760898 scopus 로고    scopus 로고
    • Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice
    • Patzko A, Bai Y, Saporta MA, et al. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain 2012;135:3551-3566. Treatment with curcumin improves the neuropathy phenotype in a mouse model of CMT caused by mutations in myelin protein zero (MZP).
    • (2012) Brain , vol.135 , pp. 3551-3566
    • Patzko, A.1    Bai, Y.2    Saporta, M.A.3
  • 62
    • 79961168180 scopus 로고    scopus 로고
    • HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
    • D'Ydewalle C, Krishnan J, Chiheb DM, et al. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med 2011;17:968-974.
    • (2011) Nat Med , vol.17 , pp. 968-974
    • D'Ydewalle, C.1    Krishnan, J.2    Chiheb, D.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.