Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus

J Neurol Sci. 2008 Jul 15;270(1-2):133-40. doi: 10.1016/j.jns.2008.02.019. Epub 2008 Apr 14.

Abstract

Background: Familial amyloid polyneuropathy (FAP) is distributed worldwide with several endemic foci including two major foci in Japan.

Objective: To elucidate a nationwide epidemiology of FAP in Japan.

Design, setting, and patients: (i) We analyzed the data of FAP patients registered by the Ministry of Health, Labour, and Welfare, Japan, during 2003-2005. (ii) As Ishikawa prefecture was found to be a novel endemic focus, we examined 27 FAP patients in Ishikawa to characterize their clinical and genetic features in comparison with other endemic foci.

Results: (i) The prevalence of familial amyloidosis in Japan was estimated to be 0.87-1.1 per 1,000,000 persons. Nagano prefecture had the highest prevalence (11-15.5), followed by Kumamoto (10.1-10.3), and then Ishikawa (3.5-4.2). (ii) All the FAP patients in Ishikawa had transthyretin (TTR) type FAP; all the families had a TTR Val30Met mutation except one family with a Leu58Arg mutation. FAP with Val30Met mutation in Ishikawa was characterized by late onset, high penetrance, and moderate autonomic dysfunction.

Conclusions: Ishikawa prefecture is the third endemic focus of FAP in Japan. FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Amyloid Neuropathies, Familial / epidemiology*
  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / metabolism
  • Amyloidosis / metabolism
  • Female
  • Humans
  • Japan / epidemiology
  • Male
  • Methionine / genetics
  • Middle Aged
  • Molecular Epidemiology*
  • Mutation*
  • Prealbumin / genetics*
  • Registries
  • Retrospective Studies
  • Valine / genetics

Substances

  • Prealbumin
  • Methionine
  • Valine