You are here

  • Home
  • Archive
  • Volume 83, Issue 2
  • Transthyretin Val30Met familial amyloid polyneuropathy: a considerably different clinical picture and natural course in endemic and non-endemic areas

Article Text

Article menu
Download PDFPDF
Editorial commentary
Transthyretin Val30Met familial amyloid polyneuropathy: a considerably different clinical picture and natural course in endemic and non-endemic areas
  1. Shu-ichi Ikeda
  1. Correspondence to Professor Shu-ichi Ikeda, Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto 390-8621, Japan; ikedasi{at}shinshu-u.ac.jp

https://doi.org/10.1136/jnnp-2011-301582

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Familial amyloid polyneuropathy (FAP) is caused by a mutation in the transthyretin (TTR) gene, which produces an amyloidogenic variant form of TTR (ATTR), thus leading to the designation of ATTR type FAP. Until now, more than 100 mutations have been identified as a cause of the gene abnormality in this disease, but the substitution of methionine for valine at position 30 (ATTR Val30Met) is the most common. FAP was once considered to be a disease peculiar to endemic areas, but FAP patients are now known to exist in many nations worldwide.1

    The clinical phenotypes of ATTR type FAP have been …

    View Full Text

    Footnotes

    • Linked article 301299.

    • Funding This work received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None.

    • Provenance and peer review Commissioned; not externally peer reviewed.

    Linked Articles