Genetic Expression of a Variant Prealbumin in Typical and Late-Onset Japanese Family with Familial Amyloidotic Polyneuropathy
Familial amyloidotic polyneuropathy (FAP) is a hereditary disorder with a high penetrance rate and equal sex ratio. The first symptoms usually appear in individuals between 20 and 45 years.1 Similar clinical patterns have been described in Portuguese,2 Japanese,3 Swedish,4 and other kindred. Japanese, Portuguese, and Swedish type of FAP all result from a systemic deposition of amyloid fibrils formed by a variant prealbumin containing a methionine-for-valine substitution at the amino acid position 30.5–7 FAP and its carrier state were identified following detection of the variant prealbumin in the serum. Recently, late-onset cases of FAP were reported.8,9 We have had a chance to examin a FAP family with a late-onset of clinical symptoms in Kumamoto prefecture, Japan, clinically and biochemically, in order to clarify relationship between the age of onset and the level of serum variant prealbumin.
KeywordsHigh Performance Liquid Chromatography Amyloid Fibril High Performance Liquid Chromatography Method Familial Amyloidotic Polyneuropathy Kumamoto Prefecture
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- 8.C. A. Libbey, A. Rubinow, J. Shirahama, C. Deal and A. S. Cohen, Late onset hereditary amyloidosis in a family from Texas, in: “Amyloidosis”, G. G. Glenner, E. F. Osserman, E. P. Benditt, E. Calkins, A. S. Cohen and D. Zucker-Franklin, eds., Plenum Press, New York (1986).Google Scholar