Summary
Genetic studies were made in 120 males and 92 females of 408 constituents of 22 pedigrees of familial amyloid polyneuropathy (FAP) originated from Ogawa Village area, Japan. The results were as follows.
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1)
The ages at the onset ranged from 20 to 68, and the mean age was 35.38 in males and 37.88 in females.
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2)
The cumulative morbid risk ratio was high as 0.8 and above.
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3)
The penetrance was very high,i.e. 100% when calculated from parents' side and 99.29% from children's side. No skipping of generations was noticed except a case in which the determination of “affected” or “non affected” was impossible.
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The segregation ratios were 34.67±27.50% as calculated by a single selection and 45.80±2.86% by a complete selection.
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5)
The transmission mode of FAP originated from Ogawa Village, Japan was autosomaly dominant.
The highness of the cumulative morbid risk ratio and penetrance ratio suggests high incidence of this disease, in future too, and the early etiological clarification is desired.
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Itoga, E., Kito, S. Genetic aspects of familial amyloid polyneuropathy in Ogawa Village, Japan. Jap J Human Genet 27, 319–334 (1982). https://doi.org/10.1007/BF01900444
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DOI: https://doi.org/10.1007/BF01900444