Familial Amyloidotic Polyneuropathy: Screening of the Population at Risk in Portugal
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.
KeywordsGenetic Counseling Cyanogen Bromide Familial Amyloidotic Polyneuropathy Normal Human Plasma Genetic Counseling Programme
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