文献リスト

1）Skre H. Genetic and clinical aspects of Charcot-Marie-Tooths disease. Clin Genet. 1974; 6: 98-118

2）Mladenovic J, Milic Rasic V, Keckarevic Markovic M, et al. Epidemiology of Charcot-Marie-Tooth disease in the population of Belgrade, Serbia. Neuroepidemiology. 2011; 36: 177-82

3）Guthmundsson B, Olafsson E, Jakobsson F, et al. Prevalence of symptomatic Charcot-Marie-Tooth disease in Iceland: a study of a well-defined population. Neuroepidemiology. 2010; 34: 13-7

4）Foley C, Schofield I, Eglon G, et al. Charcot-Marie-Tooth disease in Northern England. J Neurol Neurosurg Psychiatry. 2012; 83: 572-3

5）Morocutti C, Colazza GB, Soldati G, et al. Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study. Neuroepidemiology. 2002; 21: 241-5

6）Braathen GJ, Sand JC, Lobato A, et al. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol. 2011; 18: 39-48

7）Kurihara S, Adachi Y, Wada K, et al. An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuro-epidemiology. 2002; 21: 246-50

8）滋賀健介．シャルコー・マリー・トゥース病患者に関するアンケート報告．厚生労働科学研究費補助金難治性疾患克服研究事業「シャルコー・マリー・トゥース病の診断・治療・ケアに関する研究」班平成21年度研究報告書．2010. p.10-3

9）Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011; 69: 22-33

10）Patzko A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep. 2011; 11: 78-88

11）髙嶋　博．遺伝性ニューロパチーの診断と分子病態．臨床神経．2012; 52: 399-404

12）Choi BO, Koo SK, Park MH, et al. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat. 2012 Jun 21. [Epub ahead of print]

13）Carter GT, Han JJ, Mayadev A, et al. Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. Am J Hosp Palliat Care. 2006; 23: 412-6

14）Hood J. Femoral neuropathy in scurvy. N Engl J Med. 1969; 281: 1292-3

15）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

16）中川正法，野寺裕之，服部直樹，他．Charcot-Marie-Tooth病1Aに対するアスコルビン酸投与の有効性の検討．Peripheral Nerve. 2007; 18: 210-2

17）Micallef J, Attarian S, Dubourg O, et al. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, ran-domised, double-blind, placebo-controlled trial. Lancet Neurol. 2009; 8: 1103-10

18）Verhamme C, de Haan RJ, Vermeulen M, et al. Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med. 2009; 7: 70

19）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: 537-44

20）Toth C. Poor tolerability of high dose ascorbic acid in a population of genetically confirmed adult Charcot-Marie-Tooth 1A patients. Acta Neurol Scand. 2009; 120: 134-8

21）Pareyson D, Reilly MM, Schenone A, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. 2011; 10: 320-8

22）Burns J, Ouvrier RA, Yiu EM, et al. Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid. J Peripher Nerv Syst. 2011; 16: 272-4

23）Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology. 2005; 65: 681-9

24）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: 1533-7

25）Khajavi M, Inoue K, Wiszniewski W, et al. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005; 77: 841-50

26）Khajavi M, Shiga K, Wiszniewski W, et al. Oran curcumin mitigates the clinical and neuro-pathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007; 81: 438-53

27）Burns J, Joseph PD, Rose KJ, et al. Effect of oral curcumin on Dejerine-Sottas disease. Pediatr Neurol. 2009; 41: 305-8

28）Reilly MM, Shy ME, Muntoni F, et al. 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord. 2010; 20: 839-46

29）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

30）Ainsworth C. Networking for new drugs. Nat Med. 2011; 17: 1166-8

31）Fledrich R, Stassart RM, Sereda MW. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull. 2012; 102: 89-113

32）Sahenk Z, John C. Lin JC, et al. TrkB and TrkC agonist antibodies improve function, electro-physiologic and pathologic features in TremblerJ mice. Experimental Neurol. 2010; 224: 495-506

33）Leal A, Ichim TE, Marleau AM, et al. Immune effects of mesenchymal stem cells: Implications for Charcot-Marie-Tooth disease. Cellular Immunology. 2008; 253: 11-5

34）Dequen F, Filali M, Larivière RC, et al. Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. Hum Mol Genet. 2010; 19: 2616-29

35）Groh J, Weis J, Zieger H, et al. Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X. Brain. 2012; 135: 88-104

36）Meyer zu Horste G, Miesbach TA, Muller JI, et al. The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration. Neurobiol Dis. 2011; 42: 1-8

37）dYdewalle 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: 968-874

38）Yamauchi J, Torii T, Kusakawa S, et al. The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway. J Neurosci Res. 2010; 88: 3189-97

39）Misko AL, Sasaki Y, Tuck E, et al. Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. J Neurosci. 2012; 32: 4145-55

40）Ip CW, Kroner A, Kohl B, et al. Tacrolimus (FK506) causes disease aggravation in models for inherited peripheral myelinopathies. Neurobiol Dis. 2009; 33: 207-12

41）Nakamura T, Hashiguchi A, Suzuki S, et al. Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation. Neurogenetics. 2012; 13: 77-82

42）Ginsberg L, Malik O, Kenton AR, et al. Coexistent hereditary and inflammatory neuropathy. Brain. 2004; 127: 193-202

43）Martini R, Toyka KV. Immune-mediated compo-nents of hereditary demyelinating neuropathies: lessons from animal models and patients. Lancet Neurol. 2004; 3: 457

44）Mazzeo A, Stancanelli C, Russo M, et al. Subacute inflammatory demyelinating poly-neuropathy disclosed by massive nerve root enhance-ment in CMT1A. Muscle Nerve. 2012; 45: 451

45）Leeuwesteijn AE, de Visser E, Louwerens JW. Flexible cavovarus feet in Charcot-Marie-Tooth disease treated with first ray proximal dorsi-flexion osteotomy combined with soft tissue sur-gery: a short-term to mid-term outcome study. Foot Ankle Surg. 2010; 16: 142-7

46）渡邉耕太，山下敏彦．シャルコー・マリー・トゥース病の外科的治療．Peripheral Nerve. 2011; 22: 22-30

47）Brock M, Guinn C, Jones M. Anesthetic management of an obstetric patient with Charcot-Marie-Tooth disease: a case study. AANA J. 2009; 77: 335-7

48）Sackley C, Disler PB, Turner-Stokes L, et al. Rehabilitation interventions for foot drop in neuromuscular disease. Cochrane Database Syst Rev. 2007; 2: CD003908

49）Videler AJ, Beelen A, Nollet F. Verifying the hypothesis of overwork weakness in Charcot-Marie-Tooth. J Rehabil Med. 2010; 42: 380

50）Chetlin RD, Mancinelli CA, Gutmann L. Self-reported follow-up post-intervention adherence to resistance exercise training in Charcot-Marie-Tooth disease patients. Muscle Nerve. 2010; 42: 456

51）Maggi G, Monti Bragadin M, Padua L, et al. Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. Am J Phys Med Rehabil. 2011; 90: 628-37

52）El Mhandi L, Pichot V, Calmels P, et al. Exercise training improves autonomic profiles in patients with Charcot-Marie-Tooth disease. Muscle Nerve. 2011; 44: 732-6

53）Guillebastre B, Calmels P, Rougier PR. Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease. Am J Phys Med Rehabil. 2011; 90: 619-27

54）Rose KJ, Raymond J, Refshauge K, et al. Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. J Physiother. 2010; 56: 113-9

55）Burns J, Scheinberg A, Ryan MM, et al. Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. Muscle Nerve. 2010; 42: 262-7

56）松嶋康之，蜂須賀研二．シャルコー・マリー・トゥース病のリハビリテーション．Peripheral Nerve. 2011; 22: 31-8

57）滋賀健介，中川正法．シャルコー・マリー・トゥース病の治療．付・リハビリテーションと在宅生活の工夫．難病と在宅ケア．2008; 14: 33-6

58）CMT診療マニュアル編集委員会，編．シャルコー・マリー・トゥース病診療マニュアル．京都: 金芳堂; 2010

NPO医学中央雑誌刊行会 https://www.jamas.or.jp/ info@jamas.or.jp