Skip to main content
SpringerLink
Log in

Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication

  • Chapter
  • First Online:
Inherited Neuromuscular Diseases

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

Abstract

In this paper we revise the phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A). We mainly focus on four phenotypic hallmarks: (i) “classic” phenotype, as currently observed in proband patients; (ii) evolution of mild phenotype of secondary cases in infancy and early childhood; (iii) proximal lower-limb musculature involvement as a late phenotypic feature; and (iv) minimal adult phenotype. We also briefly revise genetic, electrophysiological, pathological and neuroimaging data of the disease.

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. Berciano J, Combarros O, Calleja, Polo JM, Leno C. The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy. Muscle Nerve 1989; 12: 302–306.

    Article  CAS  PubMed  Google Scholar 

  2. Berciano J, García A, Calleja J, Combarros O. Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication. Neuromuscul Disord 2000; 10: 419–424.

    Article  CAS  PubMed  Google Scholar 

  3. Berciano J, García A, Combarros O. Initial semeiology in children with Charcot-Marie-Tooth disease. Muscle Nerve 2003; 27: 34–39.

    Article  PubMed  Google Scholar 

  4. Berciano J, Gallardo E, García, Infante J, Mateo I, Combarros O. 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 

  5. Berciano J, Gallardo E, García A, et al. Charcot-Marie-Tooth disease type 1A duplication: refining the minimal adult phenotype. J Peripher Nerv Syst 2008; 13: 310–2.

    Google Scholar 

  6. 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 

  7. 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), doi: 10.1016/j.nmd.2008.05.012.

    Google Scholar 

  8. Combarros O, Calleja J, Figols J, Cabello A, Berciano J. Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families. J Neurol Sci 1983; 61: 181–191.

    Article  CAS  PubMed  Google Scholar 

  9. 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; 39: 1032–1038.

    Google Scholar 

  10. 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 

  11. Gabreëls-Festen AAWM, Joosten EMG, Gabreëls FJM, Jennekens FGI, Janssen-van Kempen TW. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci 1992; 107: 145–154.

    Article  PubMed  Google Scholar 

  12. Gallardo E, García A, Combarros O, Berciano J. Charcot-Marie-Tooth 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 

  13. García A, Combarros O, Calleja J, Berciano J. Charcot-Marie-Tooth disease type 1A with 17p duplication in early infancy and childhood. A longitudinal clinical and electrophysiological study. Neurology 1998; 50: 1061–1067.

    PubMed  Google Scholar 

  14. Hallam PJ, Harding AE, Berciano J, Barker DF, Malcolm S. Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type I). Ann Neurol 1992; 31: 570–572.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  16. Hoogendijk JE, De Visser M. Hereditary motor and sensory neuropathy types I and II (Charcot-Marie-Tooth disease). In: de Jong JMBV, ed. Handbook of clinical neurology, Vol. 16 (60), Amsterdam: Elsevier Science, 1991: 185–211.

    Google Scholar 

  17. Hoogendijk J, de Visser M, Bolhuis PA, Hart AAM, Ongerboer de Visser BM. 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 

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

    Article  PubMed  Google Scholar 

  19. 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.

    Article  CAS  PubMed  Google Scholar 

  20. Lupski JR, García C, Parry GJ, Patel PI. Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiologic and genetic aspects. In: Appel S, ed. Current neurology. Chicago: Mosby-Year Book, 1991:1–25.

    Google Scholar 

  21. Nicholson GA. Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology 1991; 41: 547–552.

    CAS  PubMed  Google Scholar 

  22. Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia). Neuromuscul Disord 1991; 1: 93–97.

    Article  CAS  PubMed  Google Scholar 

  23. Sabir M, Lyttle D. Pathogenesis of pes cavus in Charcot-Marie-Tooth disease. Clin Orthop Relat Res 1983; 175: 173–178.

    PubMed  Google Scholar 

  24. Shy ME, Lupski JR, Chance PH, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, eds.. Peripheral neuropathy. Philadelphia: Elsevier Saunders, 2005: 1623–1658.

    Google Scholar 

  25. 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 

  26. Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology 2008; 70: 378–383.

    Article  CAS  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

Supported by CIBERNED and FIS Grant PI07/1323E.

Author information

Authors and Affiliations

  1. Service of Neurology, Clinical Neurophysiology and Radiology, University Hospital “Marqués de Valdecilla”, University of Cantabria, CIBERNED and IFIMAV, Santander, Spain

    José Berciano, Antonio García, Elena Gallardo, César Ramón & Onofre Combarros

Authors
  1. José Berciano
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Antonio García
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Elena Gallardo
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. César Ramón
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Onofre Combarros
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to José Berciano .

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

Berciano, J., García, A., Gallardo, E., Ramón, C., Combarros, O. (2009). Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication. 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_12

Download citation

Publish with us

Policies and ethics

Search

Navigation