Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 93-96 , 15 June 2002

Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy

  • Kazunori Nanri

      Affiliations

    • Corresponding Author InformationCorresponding author. Fax: +81-3-5381-6653
    • Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Hiroya Utsumi

      Affiliations

    • Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Masahito Yamada

      Affiliations

    • Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640 Japan
    • ,
  • Yoshifumi Takata

      Affiliations

    • Second Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Atsushi Matsumura

      Affiliations

    • Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Kazusa Kougo

      Affiliations

    • Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Shigeo Sekine

      Affiliations

    • Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Daisaku Ogawa

      Affiliations

    • Third Department of Internal Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku, Tokyo 160-0023 Japan
    • ,
  • Mitsuyasu Toyoda

      Affiliations

    • Department of Surgical Pathology, Tokyo Medical University, 6-7-1 Nishinshinjuku, Shinjuku, Tokyo 160-0023 Japan

Received 12 December 2001 ,Accepted 25 February 2002.

References 

  1. Andrade C, Araki S, Block WD, Cohen AS, Jackson CE, Kuroiwa Y, et al.  Hereditary amyloidosis. Arthritis Rheum. 1970;13:902–915
  2. Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem. Biophys. Res. Commun. 1983;116:880–888
  3. Saraiva MJ, Costa PP, Birken S, Goodman DS. Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Trans. Assoc. Am. Physicians. 1983;96:261–270
  4. Planté-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy. Curr. Opin. Neurol. 2000;13:569–573
  5. Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid Int. J. Exp. Clin. Invest. 1996;3:44–56
  6. Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75:408–427
  7. Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi H, Yanagisawa N, et al.  Hereditary generalized amyloidosis with polyneuropathy. Brain. 1987;110:315–337
  8. Rukavina JG, Block WD, Jackson CE, Falls HF, Cary JH, Curtis AC. Primary systemic amyloidosis: a review and an experimental genetic and clinical study of 29 cases with particular emphasis on the familial form. Medicine. 1956;35:239–334
  9. Planté-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, et al.  Genotypic–phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology. 1998;51:708–714
  10. Uemichi T, Gertz MA, Benson MD. Amyloid polyneuropathy in two German–American families: a new transthyretin variant (Val 107). J. Med. Genet. 1994;31:416–417
  11. Jacobson DR, Gertz MA, Buxbaum JN. Transthyretin Val 107, a new variant associated with familial cardiac and neuropathic amyloidosis. Hum. Mutat. 1994;3:399–401

PII: S0022-510X(02)00051-5

Journal of the Neurological Sciences
Volume 198, Issue 1 , Pages 93-96 , 15 June 2002

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