Skip to main content

Overview of the classification and genetics of hereditary peripheral neuropathies and rare unclassified forms

  • Chapter
Hereditary Peripheral Neuropathies
  • 693 Accesses

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Dyck PJ, Thomas PK (1993) Inherited Peripheral Neuropathy. In: Dyck PJ, Thomas PK (eds) Peripheral neuropathy. Saunders, Philadelphia, pp 1015–1218

    Google Scholar 

  2. Auer-Grumbach M, Wagner K, Fazekas F, Loscher WN, Strasser-Fuchs S, Hartung HP (1999) Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation. Nervenarzt 70:1052–1061

    Article  PubMed  CAS  Google Scholar 

  3. Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M’Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F (1997) Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics 1:129–133

    PubMed  CAS  Google Scholar 

  4. Berg BO, Rosenberg SH, Asbury AK (1972) Giant axonal neuropathy. Pediatrics 49:894–899

    PubMed  CAS  Google Scholar 

  5. Bird T, Ott J, Giblett E (1982) Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 34:388–394

    PubMed  CAS  Google Scholar 

  6. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26:370–374

    PubMed  CAS  Google Scholar 

  7. Bomont P, Koenig M (2003) Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. Hum Mol Genet 12:813–822

    Article  PubMed  CAS  Google Scholar 

  8. Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C (2004) Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology 62:13–16

    PubMed  CAS  Google Scholar 

  9. Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA (1996) The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet 58:28–34

    PubMed  CAS  Google Scholar 

  10. Chalmers RM, Bird AC, Harding AE (1996) Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. J Neurol Neurosurg Psychiatry 60:195–196

    PubMed  CAS  Google Scholar 

  11. Chalmers RM, Riordan-Eva P, Wood NW (1997) Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy. J Neurol Neurosurg Psychiatry 62:385–387

    Article  PubMed  CAS  Google Scholar 

  12. Charcot J-M, Marie P (1886) Sur une forme particuliére d’atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev Méd 6:97–138

    Google Scholar 

  13. Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L (2000) A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol 48:877–884

    Article  PubMed  CAS  Google Scholar 

  14. Dawidenkow S (1927) Über die neurotische Muskelatrophie Charcot-Marie. Z Ges Neurol Psychiat 107:259–265

    Google Scholar 

  15. Dawidenkow S (1927) Über die neurotische Muskelatrophie Charcot-Marie. Z Ges Neurol Psychiat 108:344–445

    Google Scholar 

  16. Dejerine J, Sottas J (1893) Sur la névrite interstitielle, hypertrophique et progressive de l’enfance. C R Soc Biol (Paris) 45:63–96

    Google Scholar 

  17. Dupre N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA (2003) Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol 54:9–18

    PubMed  Google Scholar 

  18. Dyck PJ (1966) Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy. Mayo Clin Proc 41:742–774

    PubMed  CAS  Google Scholar 

  19. Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathy. In: Dyck PJ, Thomas PK (eds) Peripheral Neuropathy. Saunders, Philadelphia, pp 1094–1136

    Google Scholar 

  20. Dyck PJ, Lambert EH (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 18:603–618

    PubMed  CAS  Google Scholar 

  21. Gabreels-Festen A (2002) Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. J Anat 200:341–356

    Article  PubMed  Google Scholar 

  22. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259–280

    PubMed  CAS  Google Scholar 

  23. Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA (2002) The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet 32:384–392

    Article  PubMed  CAS  Google Scholar 

  24. Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP (2002) Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol 52:836–842

    Article  PubMed  CAS  Google Scholar 

  25. Inoue K, Tanabe Y, Lupski JR (1999) Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 46:313–318

    Article  PubMed  CAS  Google Scholar 

  26. Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet 48:1075–1083

    PubMed  CAS  Google Scholar 

  27. Ippel EF, Wittebol-Post D, Jennekens FG, Bijlsma JB (1995) Genetic heterogeneity of hereditary motor and sensory neuropathy type VI. J Child Neurol 10:459–463

    Article  PubMed  CAS  Google Scholar 

  28. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (2000) Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123:1516–1527

    Article  PubMed  Google Scholar 

  29. Kuhlenbäumer G, Young P, Oberwittler C, Hunermund G, Schirmacher A, Domschke K, Ringelstein B, Stogbauer F (2002) Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. Neurology 58:1273–1276

    PubMed  Google Scholar 

  30. Lambert EH, Bastron JA, Mulder DW (1958) Conduction velocity of motor fibers of peripheral nerves in peroneal muscular atrophy (Charcot-Marie-Tooth disease). Read at the annual meeting of the American Academy of Neurology, Philadelphia, April 1958

    Google Scholar 

  31. Lopez-Bigas N, Olive M, Rabionet R, Ben-David O, Martinez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbones ML, Estivill X (2001) Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet 10:947–952

    Article  PubMed  CAS  Google Scholar 

  32. Lupski J, de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B, Saucedo-Cardenas O, Barker D, Killian J, Garcia C (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219–232

    Article  PubMed  CAS  Google Scholar 

  33. Lus G, Nelis E, Jordanova A, Lofgren A, Cavallaro T, Ammendola A, Melone MA, Rizzuto N, Timmerman V, Cotrufo R, De Jonghe P (2003) Charcot-Marie-Tooth disease with giant axons: A clinicopathological and genetic entity. Neurology 61:988–990

    PubMed  CAS  Google Scholar 

  34. Mostacciuolo ML, Rampoldi L, Righetti E, Vazza G, Schiavon F, Angelini C (2000) Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity. Neuromuscul Disord 10:497–502

    PubMed  CAS  Google Scholar 

  35. Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C, Rautenstrauss B (1999) Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field. Neurogenetics 2:137–148

    Article  PubMed  CAS  Google Scholar 

  36. Nelis E, Van Broeckhoven C, De JP, Lofgren A, Vandenberghe A, Latour P, Le GE, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg SH, Estivill X, Volpini V, Friedl W, Gal A (1996) 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 4:25–33

    PubMed  CAS  Google Scholar 

  37. Ouvrier RA (1989) Giant axonal neuropathy. A review. Brain Dev 11:207–214

    PubMed  CAS  Google Scholar 

  38. Parmantier E, Lynn B, Lawson D, Turmaine M, Namini SS, Chakrabarti L, McMahon AP, Jessen KR, Mirsky R (1999) Schwann cell-derived Desert hedgehog controls the development of peripheral nerve sheaths. Neuron 23:713–724

    Article  PubMed  CAS  Google Scholar 

  39. Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontes M (2004) Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10:396–401

    Article  PubMed  CAS  Google Scholar 

  40. Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 31:347–348

    PubMed  CAS  Google Scholar 

  41. Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P (2000) Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental “neural crest syndrome” related to a SOX10 mutation. Ann Neurol 48:671–676

    Article  PubMed  CAS  Google Scholar 

  42. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1:93–97

    PubMed  CAS  Google Scholar 

  43. Sereda MW, Meyer zu Horste G, Suter U, Uzma N, Nave KA (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9:1533–1537

    Article  PubMed  CAS  Google Scholar 

  44. Sturtz FG, Chazot G, Vandenberghe AJ (1992) Charcot-Marie-Tooth disease from first description to genetic localization of mutations. J Hist Neurosci 1:47–58

    PubMed  CAS  Google Scholar 

  45. Sugie K, Futamura N, Suzumura A, Tate G, Umehara F (2002) Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. Ann Neurol 51:385–388

    Article  PubMed  Google Scholar 

  46. Tooth HH (1886) The peornual type of progressive muscular atrophy. HK Lewis & Co, London

    Google Scholar 

  47. Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, Mitsuya T, Osame M (2000) A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 67:1302–1305

    PubMed  CAS  Google Scholar 

  48. Vizioli (1889) Dell’atrofia progresiva nervosa. Boll R Acad Medico-chir, Napoli

    Google Scholar 

  49. Voo I, Allf BE, Udar N, Silva-Garcia R, Vance J, Small KW (2003) Hereditary motor and sensory neuropathy type VI with optic atrophy. Am J Ophthalmol 136:670–677

    Article  PubMed  Google Scholar 

  50. Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA (2003) CMT with pyramidal features. Neurology 60:696–699

    PubMed  CAS  Google Scholar 

  51. Windebank A (1993) Inherited recurrent focal neuropathies. In: Dyck P, Thomas P, Griffin J (eds) Peripheral Neuropathy. WB Saunders, Philadelphia, pp 1137–1148

    Google Scholar 

Download references

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Steinkopff Verlag Darmstadt

About this chapter

Cite this chapter

KuhlenbÄumer, G. (2005). Overview of the classification and genetics of hereditary peripheral neuropathies and rare unclassified forms. In: Hereditary Peripheral Neuropathies. Steinkopff. https://doi.org/10.1007/3-7985-1586-7_5

Download citation

  • DOI: https://doi.org/10.1007/3-7985-1586-7_5

  • Publisher Name: Steinkopff

  • Print ISBN: 978-3-7985-1453-9

  • Online ISBN: 978-3-7985-1586-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics