Familial Amyloidotic Polyneuropathy: Screening of the Population at Risk in Portugal

  • Pedro P. Costa
  • Maria João M. Saraiva


In 1975 the British neurologist P. K. Thomas, writing on the subject of familial amyloidotic polyneuropathy (FAP), stated that “the geographical concentration of the affected families in Portugal presents an anomalous situation. It is among the largest localized expressions of a conspicuosly deleterious dominant mutation known.” He based his considerations on the numbers presented by Andrade in a 1970 paper. In it Andrade refers the 173 families at the time registered in the Centro de Estudos de Paramiloidose in Porto. Today (October 1987) 476 pedigrees have been identified in Portugal and the disease is regarded as a health and social problem of considerable proportions.


Genetic Counseling Cyanogen Bromide Familial Amyloidotic Polyneuropathy Normal Human Plasma Genetic Counseling Programme 


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  1. Altland, K., and Banzhoff A., 1986, Separation by hybrid isoelectric focusing of normal human plasma transthyretin (prealbumin) and a variant with a methionine for valine substitution associated with familial amyloidotic polyneuropathy, Electrophoresis, 37:529.CrossRefGoogle Scholar
  2. Andrade, C., Araki, S., Block, W. D., Cohen, A. S., Jackson, C. E., Kuroiwa, Y., McKusick, V. A., Nissim, J., Sohar, E., and Van Allen, M. W., 1970, Here-ditary amyloidosis, Arthr. & Rheum., 13: 902.CrossRefGoogle Scholar
  3. Coutinho, P., Martins da Silva, A., Lopes Lima, J., and Resende Barbosa, A, 1980, Forty years of experience with type I amyloid neuropathy. Review of 483 cases, 1980, in: “Amyloid and Amyloidosis”, G. G. Glenner, P. Pinho e Costa & Falcão de Freitas, eds., Excerpta Medica, Amsterdam.Google Scholar
  4. Nakazato, M., Kangawa, K., Minamino, N., Tawara, S., Matsuo, H., and Araki, S., 1984, Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type), Biochem. Biophys. Res. Commun., 122: 719.CrossRefGoogle Scholar
  5. Saraiva, M. J. M., Melhus, H., Rego, K., Costa, P. P., Peterson, P. A., and Goodman, D. S., 1985, Genetic studies on a human plasma transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy, in: “Protides of the Biological Fluids”, vol. 33, H. Peeters, ed., Pergamon Press, Oxford.Google Scholar
  6. Thomas, P. K., 1975, Genetic factors in amyloidosis, J. Med. Genet., 12: 317.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • Pedro P. Costa
    • 1
  • Maria João M. Saraiva
    • 1
    • 2
  1. 1.Centro de Estudos de Paramiloidose do Instituto Nacional de SaúdeHospital Geral de Santo AntónioPortugal
  2. 2.Instituto de Ciências Biomédicas Abel SalazarPortoPortugal

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