Skip to main content

Biochemical and Genetic Characterization of a Variant Transthyretin Causing Familial Amyloidotic Polyneuropathy

  • Chapter
Amyloidosis

Abstract

Familial amyloidotic polyneuropathy (FAP) has a worldwide distribution and type I FAP is the most common disorder characterized by progressive polyneuropathy. Very little has been known about the biochemical and genetic nature of this intractable disorder. In addition there has been no diagnostic method for this progressive disorder before symptoms appear around the age of 20 to 40 years. Since this disorder is transmitted by autosomal dominant inheritance and the clinical onset is postmarital, it has long been desired to develop an early diagnostic method to predict possible transmission of the disease.

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

Access this chapter

eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 16.99
Price excludes VAT (USA)
  • Compact, lightweight 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. Nomenclattire Coinnittee of lUB (NC-IUB) lUB-IUPAC Joint Commission on Biochemical Nomenclature (JCBN). J. Biol. Chem. 256, 12–14, 1981.

    Google Scholar 

  2. Tawara, S., Nakazato, M., Kangawa, K., et al. Biochem. Biophys. Res. Commun. 116, 880–888, 1983.

    Article  PubMed  CAS  Google Scholar 

  3. Nakazato, N., Kangawa, K., Minamino, N., et al. Biochem. Biophys. Res. Commun. 122, 712–718, 1984.

    Article  PubMed  CAS  Google Scholar 

  4. Nakazato, M., Kangawa, K., Minamino, N., et al. Biochem. Biophys. Res. Commun. 122, 719–725, 1984.

    Article  PubMed  CAS  Google Scholar 

  5. Nakazato, M., Kurihara, T., Matsukura, S., et al. J. Clin. Invest. 77, 1699–1703, 1986.

    Article  PubMed  CAS  Google Scholar 

  6. Sasaki, H., Sakaki, Y., Matsuo, H., et al. Biochem. Biophys. Res. Commun. 125, 636–642, 1984.

    Article  PubMed  CAS  Google Scholar 

  7. Yoshioka, K., Sasaki, H., Yoshioka, N., et al. Mol. Biol. Med. (In Press).

    Google Scholar 

  8. Saraiva, M.J.M., Birken, S., Costa, P.P., et al. J. Clin. Invest. 74, 104–119, 1984.

    Article  PubMed  CAS  Google Scholar 

  9. Dwulet, F.E. & Benson, M.D. Proc. Natl. Acad. Sci. USA. 81, 694–698, 1984.

    Article  PubMed  CAS  Google Scholar 

  10. Benson, M.D. & Dwulet, F.E. Clin. Res. 33, 590A, 1985.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1986 Martinus Nijhoff Publishers, Dordrecht

About this chapter

Cite this chapter

Nakazato, M. et al. (1986). Biochemical and Genetic Characterization of a Variant Transthyretin Causing Familial Amyloidotic Polyneuropathy. In: Marrink, J., Van Rijswijk, M.H. (eds) Amyloidosis. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-4309-4_23

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-4309-4_23

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-8415-4

  • Online ISBN: 978-94-009-4309-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics