Skip to main content
SpringerLink
Log in

Natural History and Treatment of Peripheral Inherited Neuropathies

  • Chapter
  • First Online:
Inherited Neuromuscular Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 652))

Abstract

Charcot-Marie-Tooth disease (CMT) is genetically highly heterogeneous. Disease course and severity vary according to CMT type, causative gene, and mutation type, but considerable phenotypic variability may occur also for the same CMT type. Research is focused on possible modifier factors particularly in CMT1A associated with Peripheral Myelin Protein 22 (PMP22) overexpression. Natural history studies are important to define disease course in different CMT types and to allow better assessment of intervention efficacy. Only a few such studies have been carried out, mainly on CMT1A, and described impairment and disability progression. Motor potential amplitudes seem to correlate with disease severity and progression, suggesting that axonal loss is the basis of disability in CMT. There is need to develop suitable and reproducible outcome measures: the CMT Neuropathy Score is the only validated outcome score specific for CMT, but others have been tested during the last few years. Currently there is no effective drug therapy for CMT and supportive treatment is limited to physical therapy, orthotics, surgical treatment of skeletal deformities and soft tissue abnormalities, and symptomatic drug treatment. Research is focused on developing new treatment strategies and approaches. The progesterone antagonist onapristone proved to be effective in a rat model of CMT1A; unfortunately, currently available progesterone antagonists are too toxic to be safely administered to patients. Neurotrophin-3 (NT3), a neurotrophic factor known to promote axonal growth, was tested with favourable results in two animal models and in a pilot study involving eight CMT1A patients. Ascorbic acid (AA) administration to CMT1A mice improved clinical and neuropathological findings, possibly by down-regulating PMP22 through a cAMP mediated mechanism. Clinical trials of AA in the human disease are currently being performed. Curcumin stimulates translocation of misfolded protein from the endoplasmic reticulum and proved useful for selected myelin protein zero and PMP22 mutants in vitro and in the animal models Trembler and TremblerJ.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Aboussouan LS, Lewis RA, Shy ME. Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth Disease. Lung 2007; 185:1–7.

    Article  PubMed  Google Scholar 

  2. Berciano J, Gallardo E, García A, et al. Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. J Neurol Neurosurg Psychiatry 2006; 77:1169–1176.

    Article  CAS  PubMed  Google Scholar 

  3. Bienfait HM, Baas F, Koelman JH, et al. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology 2007; 68:1658–1667.

    Article  CAS  PubMed  Google Scholar 

  4. Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120:813–823.

    Article  PubMed  Google Scholar 

  5. Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2000; 51:190–201.

    Article  CAS  Google Scholar 

  6. Bradley WG, Badger GJ, Tandan R, Fillyaw MJ, Young J, Fries TJ, et al. Double-blind controlled trials of Cronassial in chronic neuromuscular diseases and ataxia. Neurology 1988; 38:1731–1739.

    CAS  PubMed  Google Scholar 

  7. Brown RE, Zamboni WA, Zook EG, et al. Evaluation and management of upper extremity neuropathies in Charcot-Marie-Tooth-disease. J Hand Surg 1992; 17:523–530.

    Article  CAS  Google Scholar 

  8. Burns J, Redmond A, Ouvrier R, et al. Quantification of muscle strength and imbalance in neurogenic pes cavus, compared to health controls, using hand-held dynamometry. Foot Ankle Int 2005; 26:540–544.

    PubMed  Google Scholar 

  9. Burns J, Crosbie J, Ouvrier R et al. Effective orthotic therapy for the painful cavus foot: a randomized controlled trial. J Am Podiatr Med Assoc 2006; 96:205–211.

    PubMed  Google Scholar 

  10. Carter GT, Jensen MP, Galer BS, et al. Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 1998; 79:1560–1564.

    Article  CAS  PubMed  Google Scholar 

  11. Carter GT, Han JJ, Mayadev A, Weiss MD. Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. Am J Hosp Palliat Care 2006; 23:412–416.

    Article  PubMed  Google Scholar 

  12. Carter GT, Weiss MD, Han JJ, et al. Charcot-Marie-Tooth disease. Curr Treat Options Neurol 2008; 10:94–102.

    Article  PubMed  Google Scholar 

  13. Carvalho AA, Vital A, Ferrer X, et al. Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. J Peripher Nerv Syst 2005; 10:85–92.

    Article  PubMed  Google Scholar 

  14. Chetlin RD, Gutmann L, Tarnopolsky MA, et al. Resistance training exercise and creatine in patients with Charcot-Marie-Tooth disease. Muscle Nerve 2004; 30:69–76.

    Article  CAS  PubMed  Google Scholar 

  15. Chetlin RD, Gutmann L, Tarnopolsky M, et al. Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription. Arch Phys Med Rehabil 2004; 85:1217–1223.

    Article  PubMed  Google Scholar 

  16. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006; 129:2103–2118.

    Article  CAS  PubMed  Google Scholar 

  17. Chung KW, Suh BC, Shy ME, et al. Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord 2008; 18:610–618.

    Article  CAS  PubMed  Google Scholar 

  18. Congia S, Tronci S, Ledda M, et al. Low doses of TRH in amyotrophic lateral sclerosis and in other neurological diseases. Italian Journal of Neurological Sciences 1991; 12:193–198.

    Article  CAS  PubMed  Google Scholar 

  19. Cornblath DR, Chaudhry V, Carter K, et al. Total neuropathy score: validation and reliability study. Neurology 1999; 53:1660–1664.

    CAS  PubMed  Google Scholar 

  20. De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999; 122:281–290.

    Article  PubMed  Google Scholar 

  21. Désarnaud F, Do Thi AN, Brown AM, et al. Progesterone stimulates the activity of the promoters of peripheral myelin protein 22 and protein zero genes in Schwann cells. J Neurochem 1998; 71:1765–1768.

    Article  PubMed  Google Scholar 

  22. Donaghy M, Sisodiya SM, Kennett R, et al. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psychiatry 2000; 69:799–805.

    Article  CAS  PubMed  Google Scholar 

  23. Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001; 124:1958–1967.

    Article  CAS  PubMed  Google Scholar 

  24. Dyck PJ, Swanson CJ, Low PA, et al. Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc 1982; 57:239–246.

    CAS  PubMed  Google Scholar 

  25. Dyck PJ, Karnes JL, Lambert EH. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 1989; 39:1302–1308.

    CAS  PubMed  Google Scholar 

  26. El Mhandi L, Millet GY, Calmels P, et al. Benefits of interval-training on fatigue and functional capacities in Charcot-Marie-Tooth disease. Muscle Nerve 2008; 37:601–610.

    Article  PubMed  Google Scholar 

  27. Folkers K, Simonsen R. Two successful double-blind trials with coenzyme Q10 (vitamin Q10) on muscular dystrophies and neurogenic atrophies. Biochimica et Biophysica Acta 1995; 127:281–286.

    Google Scholar 

  28. Gallardo E, García A, Combarros O, et al. Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 2006; 129:426–437.

    Article  PubMed  Google Scholar 

  29. Garcia CA, Malamut RE, England JD, et al. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. 1: Neurology 1995; 45:2090–2093.

    CAS  Google Scholar 

  30. Garcia A, Combarros O, Calleja J, et al. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 1998; 50:1061–1067.

    CAS  PubMed  Google Scholar 

  31. Gemignani F, Marbini A. Disease course of Charcot-Marie-Tooth disease type 2 and comorbidity. Arch Neurol 2004; 61:1470.

    Article  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  33. Graham RC, Huges RAC. Clinimetric properties of a walking scale in peripheral neuropathy. J Neurol Neurosurg Psychiatry 2006; 77:977–979.

    Article  CAS  PubMed  Google Scholar 

  34. Hardie R, Harding AE, Hirsh N, et al. Diaphragmatic weakness in hereditary moto rand sensory neuropathy. J Neurol Neurosurg Psychiatry 1990; 53:348–350.

    Article  CAS  PubMed  Google Scholar 

  35. Hattori N, Yamamoto M, Yoshihara T, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003; 126:134–151.

    Article  PubMed  Google Scholar 

  36. Hodapp JA, Carter GT, Lipe HP, et al. Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 2006; 63:112–117.

    Article  PubMed  Google Scholar 

  37. Hoogendijk JE, De Visser M, Bolhuis PA, et al. Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 1994; 17:85–90.

    Article  CAS  PubMed  Google Scholar 

  38. Huxley C, Passage E, Manson A, et al. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 1996; 5:563–569.

    Article  CAS  PubMed  Google Scholar 

  39. Jani-Acsadi A, Krajewski K, Shy ME. Charcot-Marie-Tooth neuropathies: diagnosis and management. Semin Neurol 2008; 28:185–194.

    Article  PubMed  Google Scholar 

  40. Jaradeh S, Dyck PJ. Hereditary motor and sensory neuropathy with treatable extrapyramidal features. Arch Neurol 1992; 49:175–178.

    CAS  PubMed  Google Scholar 

  41. Karol LA, Elerson E. Scoliosis in patients with Charcot-Marie-Tooth disease. J Bone Joint Surg Am 2007; 89:1504–1510.

    Article  PubMed  Google Scholar 

  42. Kaya F, Belin S, Bourgeois P, et al. Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul Disord 2007; 17:248–253.

    Article  PubMed  Google Scholar 

  43. 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; 77:841–850.

    Article  CAS  PubMed  Google Scholar 

  44. 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 inheritedneuropathy. Am J Hum Genet 2007; 81:438–453.

    Article  CAS  PubMed  Google Scholar 

  45. Killian JM, Tiwari PS, Jacobson S, et al. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 1996; 19:74–78.

    Article  CAS  PubMed  Google Scholar 

  46. Kilmer DD, McCrory MA, Wright NC, et al. The effect of a high resistance exercise program in slowly progressive neuromuscular disease. Arch Phys Med Rehabil 1994; 75:560–563.

    CAS  PubMed  Google Scholar 

  47. Kilmer DD, McCrory MA, Wright NC, et al. Hand-held dynamometry reliability in persons with neuropathic weakness. Arch Phys Med Rehabil 1997; 78:1364–1368.

    Article  CAS  PubMed  Google Scholar 

  48. Kilmer DD, Aitkens SG, Wright NC, et al. Simulated work performance tasks in persons with neuropathic and myopathic weakness. Arch Phys Med Rehabil. 2000; 81:938–943.

    Article  CAS  PubMed  Google Scholar 

  49. Kilmer DD. Response to aerobic exercise training in humans with neuromuscular disease. Am J Phys Med Rehabil 2002; 81:S148–150.

    Article  PubMed  Google Scholar 

  50. Kilmer DD, Wright NC, Aitkens S. Impact of a home-based activity and dietary intervention in people with slowly progressive neuromuscular diseases. Arch Phys Med Rehabil 2005; 86:2150–2156.

    Article  PubMed  Google Scholar 

  51. Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123:1516–1527.

    Article  PubMed  Google Scholar 

  52. Laurà M, Milani M, Morbin M, et al. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. J Neurol Neurosurg Psychiatry 2007; 78:1263–1266.

    Article  PubMed  Google Scholar 

  53. Li J, Bai Y, Ghandour K, Qin P, et al. Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain 2005; 128:1168–1177.

    Article  PubMed  Google Scholar 

  54. Liang GSL, de Miguel M, Gomez-Hernandez JM, et al. Severe neuropathy with leaky connexin32 hemichannels. Ann Neurol 2005; 57:749–754.

    Article  CAS  PubMed  Google Scholar 

  55. Lin GS, Glass JD, Shumas S, et al. A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female. Ann NY Acad Sci 1999; 883:481–484.

    Article  CAS  PubMed  Google Scholar 

  56. Lindeman E, Leffers P, Reulen J, et al. Reduction of knee torques and leg–related functional abilities in hereditary motor and sensory neuropathy. Arch Phys Med Rehabil 1994; 75:1201–1205.

    Article  CAS  PubMed  Google Scholar 

  57. Lindeman E, Leffers P, Spaans F, et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Arch Phys Med Rehabil 1995; 76:612–620.

    Article  CAS  PubMed  Google Scholar 

  58. Lindeman E, Spaans F, Reulen J, et al. Progressive resistance training in neuromuscular patients. Effects on force and surface EMG. J Electromyogr Kinesiol 1999; 9:379–384.

    Article  CAS  PubMed  Google Scholar 

  59. Lissett CA, Toogood AA, Didi M. Growth hormone replacement in an adult with mild growth hormone deficiency and hereditary motor and sensory neuropathy: growth hormone restores independent mobility. Hormone Research 1998; 50:232–236.

    Article  CAS  PubMed  Google Scholar 

  60. Lombardi R, Erne B, Lauria G, et al. IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy. Ann Neurol 2005; 57:180–187.

    Article  CAS  PubMed  Google Scholar 

  61. Lupski JR and Chance PFK. Hereditary Motor and Sensory Neuropathies involving altered dosage or mutation of PMP22: the CMT1A duplication and HNPP deletion. In: Dyck PJ, Thomas PK (eds.) Peripheral neuropathy. 4th ed. Elsevier Saunders, Philadelphia, 2005; pp. 1659–1680.

    Google Scholar 

  62. Magnaghi V, Cavarretta I, Galbiati M, et al. Neuroactive steroids and peripheral myelin proteins. Brain Res Brain Res Rev 2001; 37:360–371.

    Article  CAS  PubMed  Google Scholar 

  63. Mann DC, Hsu JD. Triple arthrodesis in the treatment of fixed cavovarus deformity in adolescent patients with Charcot-Marie-Tooth disease. Foot Ankle 1992;13:1–6.

    CAS  PubMed  Google Scholar 

  64. Martyn CN, Hughes RAC. Epidemiology of peripheral neuropathy. J Neurol Neurosurg Psychiatry 1997; 62: 310–318.

    Article  CAS  PubMed  Google Scholar 

  65. Matjacić Z, Zupan A. Effects of dynamic balance training during standing and stepping in patients with hereditary sensory motor neuropathy. Disabil Rehabil 2006; 28:1455–1459.

    Article  PubMed  Google Scholar 

  66. Meyer zu Horste G, Prukop T, Liebetanz D, et al. Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 2007; 61:61–72.

    Article  CAS  PubMed  Google Scholar 

  67. Merkies IS, Lauria G. 131st ENMC international workshop: selection of outcome measures for peripheral neuropathy clinical trials 10-12 December 2004, Naarden, The Netherlands. Neuromuscul Disord 2006; 16:149–156.

    Article  CAS  PubMed  Google Scholar 

  68. Miller MJ, Williams LL, Slack SL, et al. The hand in Charcot-Marie-Tooth disease. J Hand Surg 1991; 16:191–196.

    Article  CAS  Google Scholar 

  69. Miller GM, Hsu JD, Hoffer MM, et al. Posterior tibial tendon transfer: a review of the literature and analysis of 74 procedures. J Pediatr Orthop 1982; 2:363–370.

    CAS  PubMed  Google Scholar 

  70. Nagamatsu M, Jenkins RB, Schaid DJ, et al. Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D. Arch Neurol 2000; 57:669–672.

    Article  CAS  PubMed  Google Scholar 

  71. Nave KA, Sereda MW, Ehrenreich H. Mechanisms of disease: inherited demyelinating neuropathies–from basic to clinical research. Nat Clin Pract Neurol 2007; 3:453–464.

    Article  CAS  PubMed  Google Scholar 

  72. Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4:25–33.

    CAS  PubMed  Google Scholar 

  73. Padua L, Cavallaro T, Pareyson D, et al; Italian CMT QoL Study Group. Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. Neurol Sci 2008; 29:193–194.

    Article  PubMed  Google Scholar 

  74. Padua L, Pareyson D, Aprile I, et al. Natural history of CMT1A including QoL: a 2-year prospective study. Neuromuscul Disord 2008; 18:199–203.

    Article  CAS  PubMed  Google Scholar 

  75. Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci 2004; 25:72–82.

    Article  CAS  PubMed  Google Scholar 

  76. Pareyson D, Scaioli V, Laurà M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006; 8:3–22.

    Article  CAS  PubMed  Google Scholar 

  77. Pareyson D, Schenone A, Fabrizi GM, et al. for the CMT-TRIAAL Group. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. Pharmacol Res 2006; 54:436–441.

    Article  CAS  PubMed  Google Scholar 

  78. Pareyson D. Axonal Charcot-Marie-Tooth disease: the fog is only slowly lifting. Neurology 2007; 68:1649–1650.

    Article  PubMed  Google Scholar 

  79. Pareyson D, Schenone A, Rizzuto N, et al. Clinical and electrophysiological evaluation of 222 patients with Charcot- Marie-Tooth disease type 1A recruited in the CMT-TRIAAL (ascorbic acid therapy for Charcot-Marie-Tooth 1A disease). J Neurol 2008; 255 (Suppl 2): 104 (P422).

    Google Scholar 

  80. 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.

    Article  CAS  PubMed  Google Scholar 

  81. Perea J, Robertson A, Tolmachova T, et al. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 2001; 10:1007–1018.

    Article  CAS  PubMed  Google Scholar 

  82. Pfeiffer G, Wicklein EM, Ratusinski T, et al. Disability and quality of life in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatry 2001; 70:548–550.

    Article  CAS  PubMed  Google Scholar 

  83. Refshauge KM, Raymond J, Nicholson G, et al. Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial. Aust J Physiother 2006; 52:193–199.

    PubMed  Google Scholar 

  84. Reilly MM. Sorting out the inherited neuropathies. Pract Neurol 2007; 7:93–105.

    PubMed  Google Scholar 

  85. Reilly MM, de Jonghe P, Pareyson D. 136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A). 8-10 April 2005, Naarden, The Netherlands. Neuromuscul Disord 2006; 16: 396–402.

    Article  CAS  PubMed  Google Scholar 

  86. Russell JW, Windebank AJ, Harper CM. Treatment of stable chronic demyelinating polyneuropathy with 3,4-diaminopyridine. Mayo Clinic Proceedings 1995; 70:532–539.

    Article  CAS  PubMed  Google Scholar 

  87. Sackley C, Disler PB, Turner-Stokes L, et al. Rehabilitation interventions for foot drop in neuromuscular disease. Cochrane Database Syst Rev 2007 18; (2):CD003908.

    Google Scholar 

  88. 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; 6:681–689.

    Article  Google Scholar 

  89. Saltzman CL, Fehrle MJ, Cooper RR, et al. Triple arthrodesis: twenty-five and forty-four-year average follow-up of the same patients. J Bone Joint Surg Am 1999; 81:1391–402.

    CAS  PubMed  Google Scholar 

  90. Sellers RW, van Ginneken BTJ, Schreuders TAR, et al. Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease. Neurology 2006; 67:2022–2027.

    Article  Google Scholar 

  91. Sereda M, Griffiths I, Pühlhofer A, et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996; 16:1049–1060.

    Article  CAS  PubMed  Google Scholar 

  92. Sereda MW, Meyer zu Hörste G, Suter U, et al. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT1A). Nat Med 2003; 9:1533–1537.

    Article  CAS  PubMed  Google Scholar 

  93. Shy ME, Jáni A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127:371–384.

    Article  PubMed  Google Scholar 

  94. 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.

    CAS  PubMed  Google Scholar 

  95. Shy ME. Therapeutic strategies for the inherited neuropathies. Neuromolecular Med 2006; 8:255–278.

    Article  CAS  PubMed  Google Scholar 

  96. Shy ME, Siskind C, Swan ER, et al. CMT1X phenotypes represent loss of gene function GJB1. Neurology 2007; 68:849–855.

    Article  CAS  PubMed  Google Scholar 

  97. Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A.Neurology 2008; 70:378–83.

    Article  CAS  PubMed  Google Scholar 

  98. Solari A, Laurà M, Salsano E, Radice D, Pareyson D; CMT–TRIAAL Study Group. Reliability of clinical outcome measures in Charcot–Marie–Tooth disease. Neuromuscul Disord 2008; 18:19–26.

    Article  CAS  PubMed  Google Scholar 

  99. Svensson E, Häger-Ross C. Hand function in Charcot-Marie-Tooth: test-retest reliability of some measurements. Clin Rehab 2006; 20:896–908.

    Google Scholar 

  100. Szigeti K, Wiszniewski W, Saifi GM, et al. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 2007; 8:257–262.

    Article  PubMed  Google Scholar 

  101. Teunissen LL, Notermans NC, Franssen H, et al. Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. Arch Neurol 2003; 60:823–828.

    Article  PubMed  Google Scholar 

  102. Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999; 52:1827–1832.

    CAS  PubMed  Google Scholar 

  103. Thomas PK, Marques W Jr, Davis MB et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120:465–478.

    Article  PubMed  Google Scholar 

  104. Vallat JM, Tazir M, Magdelaine C, et al. Autosomal-recessive Charcot-Marie-Tooth diseases. J Neuropathol Exp Neurol 2005; 64:363–370.

    CAS  PubMed  Google Scholar 

  105. Verhamme C, van Schaik IN, Koelman JH, et al. Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy IA. J Neurol 2004; 251:1491–1497.

    Article  PubMed  Google Scholar 

  106. Verhoeven K, Claeys KG, Zuchner S, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006; 129:2093–2102.

    Article  PubMed  Google Scholar 

  107. Videler AJ, Beelen A, Aufdemkampe G, et al. Hand strength and fatigue in patients with hereditary motor and sensory neuropathy (types I and II). Arch Phys Med Rehabil 2002; 83:1274–1278.

    Article  PubMed  Google Scholar 

  108. Videler AJ, Beelen A, van Schaik IN, et al. Manual dexterity in hereditary motor and sensory neuropathy type 1a: severity of limitations and feasibility and reliability of two assessment instruments. J Rehabil Med 2008; 40:132–136.

    Article  PubMed  Google Scholar 

  109. Vinci P, Esposito C, Perelli SL, et al. Overwork weakness in Charcot–Marie–Tooth disease. Arch Phys Med Rehabil 2003; 84:825–827.

    Article  PubMed  Google Scholar 

  110. Vinci P, Serrao M, Millul A, et al. Quality of life in patients with Charcot-Marie-Tooth disease. Neurology 2005; 65:922–924.

    Article  CAS  PubMed  Google Scholar 

  111. Vinci P, Gargiulo P. Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. Eur J Phys Rehabil Med 2008; 44:27–31.

    CAS  PubMed  Google Scholar 

  112. Wetmore RS, Drennan JC. Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease. J Bone Joint Surg Am 1989; 71:417–422.

    CAS  PubMed  Google Scholar 

  113. Weimer LH, Podwall D. Medication-induced exacerbation of neuropathy in Charcot-Marie-Tooth disease. J Neurol Sci 2006; 242:47–54.

    Article  PubMed  Google Scholar 

  114. Williams LL, O'Dougherty MM, Wright FS, et al. Dietary essential fatty acids, vitamin E, and Charcot-Marie-Tooth disease. Neurology 1986; 36:1200–1205.

    CAS  PubMed  Google Scholar 

  115. Wood VE, Huene D, Nguyen J. Treatment of the upper limb in Charcot-Marie-Tooth disease. J Hand Surg 1995; 20:511–518.

    Article  CAS  Google Scholar 

  116. World Health Organization. International Classification of Functioning. Disability and Health. Geneva: WHO, 2001.

    Google Scholar 

  117. Wright NC, Kilmer DD, McCrory MA, et al. Aerobic walking in slowly progressive neuromuscular disease: effect of a 12-week program. Arch Phys Med Rehabil 1996; 77:64–69.

    Article  CAS  PubMed  Google Scholar 

  118. Young P, De Jonghe P, Stögbauer F, et al. Treatment for Charcot-Marie-Tooth disease. Cochrane Database Syst Rev. 2008; 23(1):CD006052.

    Google Scholar 

Download references

Acknowledgements

Supported by Telethon Italy (Grants N° GUP04002 and GUP05007), and by the Italian Medicines Agency (AIFA) within the independent drug research program (contract no. FARM53APAH).

Author information

Authors and Affiliations

  1. IRCCS Foundation, “C. Besta” Neurological Institute, Via Celoria 11, 20133, Milan, Italy

    Davide Pareyson & Chiara Marchesi

Authors
  1. Davide Pareyson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Chiara Marchesi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Davide Pareyson .

Editor information

Editors and Affiliations

  1. CIBERER-BIOBANK, Avda. Campanar 21, Valencia, 46009, Spain

    Carmen Espinós

  2. Lab. Neurobiología, Centro de Investigación Príncipe Felipe, Av. Autopista del Saler 16, Valencia, 46012, Spain

    Vicente Felipo

  3. Inst. Biomedicina, CSIC Valencia, C/ Jaime Roig 11, Valencia, 46010, Spain

    Francesc Palau

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer Science+Business Media B.V.

About this chapter

Cite this chapter

Pareyson, D., Marchesi, C. (2009). Natural History and Treatment of Peripheral Inherited Neuropathies. In: Espinós, C., Felipo, V., Palau, F. (eds) Inherited Neuromuscular Diseases. Advances in Experimental Medicine and Biology, vol 652. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-2813-6_14

Download citation

Publish with us

Policies and ethics

Search

Navigation