Advertisement

Molecular Analysis of a Variant Type of Familial Amyloidotic Polyneuropathy (FAP) Showing Cerebellar Ataxia and Pyramidal Tract Signs

  • Hirokazu Furuya
  • Katsuji Yoshioka
  • Hiroyuki Sasaki
  • Yoshiyuki Sakaki
  • Masamitsu Nakazato
  • Hisayuki Matsuo
  • Akira Nakadai
  • Shu-ichi Ikeda
  • Nobuo Yanagisawa
Chapter

Abstract

A Japanese family with atypical type I familial amyloidotic polyneuropathy(FAP) in Iiyama, Japan was studied. Most of the family members have dysfunctions of the CNS, in addition to neuropathy. The transthyretin (TTR) gene of this atypical type I FAP was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutations responsible for the methionine-for-valine substitution at position 30 of TTR. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-IY has a genetic background differing from that of typical type I FAP.

These observations lead to the consideration that a genetic factor (s) involved in the dysfunction of the CNS may locate in a chromosome region in close proximity to the TTR gene.

Keywords

Cerebellar Ataxia Typical Type Familial Amyloidotic Polyneuropathy Atypical Type Spinocerebellar Degeneration 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    S. Ikeda, N. Hanyu, M. Hongo, J. Yoshioka,H. Oguchi, N. Yanagisawa, T. Kobayashi, H. Tsukagoshi, N. Ito and T. Yokota, Brain, 110:315 (1987).CrossRefGoogle Scholar
  2. 2.
    T. Kobayashi, S. Nakagawa, K. Oguchi, N. Yanagisawa, and H. Tsukagoshi, Clin. Neurol. (Tokyo), 18:515 (1978).Google Scholar
  3. 3.
    H. Sasaki, Y. Sakaki, H. Matsuo, I. Goto, Y. Kuroiwa, I. Sahashi, A. Takahashi, T. Shinoda, T. Isobe and Y. Takagi, Biochem. Biophys. Res. Commun. 125:636 (1984).CrossRefGoogle Scholar
  4. 4.
    S. Mita, S. Maeda, M. Ide, T. Tsuzuki, K. Shimada and S. Araki, Neurology, 36:298 (1986).CrossRefGoogle Scholar
  5. 5.
    T. Maniatis, E. F. Fritsch and J. Sambrook, “Molecular cloning. A laboratory manual,” Cold Spring Harbor Laboratory, New York. (1982).Google Scholar
  6. 6.
    R. K. Saiki, S. Scharf, F. Faloona, K. B. Mullis, G. T. Horn, H. A. Erlich and N. Arnheim, Science, 230:1350 (1985).CrossRefGoogle Scholar
  7. 7.
    H. Sasaki, N. Yoshioka, Y. Takagi and Y. Sakaki, Gene, 37:191 (1985).CrossRefGoogle Scholar
  8. 8.
    W. D. Benton and R. W. Davis, Science, 196:180 (1977).CrossRefGoogle Scholar
  9. 9.
    M. Hattori and Y. Sakaki, Analy. Biochem. 152:232 (1986).CrossRefGoogle Scholar
  10. 10.
    M. Nakazato, K. Kangawa, N. Minamino, S. Tawara, H. Matsuo and S. Araki, Biochem. Biophys. Res. Commun. 122:719 (1984).CrossRefGoogle Scholar
  11. 11.
    M. Nakazato, T. Kurihara, S. Matsukura, K. Kangawa and H. Matsuo, J. Clin. Invest. 77:1699 (1986).CrossRefGoogle Scholar
  12. 12.
    K. Yoshioka, H. Sasaki, N. Yoshioka, H. Furuya, T. Harada, S. Kito and Y. Sakaki, Mol. Biol. Med. 3:319 (1986).Google Scholar
  13. 13.
    K. Yoshioka, N. Yoshioka, K. Nakabeppu and Y. Sakaki, Nucl. Acids. Res. 14:3147 (1986).CrossRefGoogle Scholar
  14. 14.
    H. Furuya, K. Yoshioka, H. Sasaki, Y. Sakaki, M. Nakazato, H. Matsuo, A. Nakadai, S. Ikeda and N. Yanagisawa, J. Clin. Invest, in press.Google Scholar
  15. 15.
    S. Love and L. W. Duchen, J. Neurol. Neurosurg. Psychiatry. 45:271 (1982).CrossRefGoogle Scholar
  16. 16.
    M. R. Wallace, S.L. Naylor, B.K. Beckerman, G.L. Long, L. McDonald, T.B. Shows and M.D. Benson, Biochem. Biophys. Res. Commun. 129:753 (1985).CrossRefGoogle Scholar
  17. 17.
    R. S. Sparkes, H. Sasaki, T. Mohandas, K. Yoshioka, I. Klisak, Y. Sakaki, C. Heinzmann and M. I. Simon, Hum. Genet. 75:151 (1987).CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • Hirokazu Furuya
    • 1
  • Katsuji Yoshioka
    • 1
  • Hiroyuki Sasaki
    • 1
  • Yoshiyuki Sakaki
    • 1
  • Masamitsu Nakazato
    • 2
  • Hisayuki Matsuo
    • 2
  • Akira Nakadai
    • 3
  • Shu-ichi Ikeda
    • 3
  • Nobuo Yanagisawa
    • 3
  1. 1.Research Laboratory for Genetic InformationKyushu University 18Fukuoka 812Japan
  2. 2.Miyazaki Medical CollegeUSA
  3. 3.Shinshu UniversityUSA

Personalised recommendations