Diagnosis of Familial Amyloid Polyneuropathy by Recombinant DNA Techniques in Relation with Clinical Features
Andrade (1952) type familial amyloid polyneuropathy (FAP) is a disease inherited by autosomal dominance. Serum prealbumin variant with a substitution of methionine (Met) for valine (Val) at position 30 is known to be etiologically related to Andrade type FAP (Tawara et al., 1983; Nakazato et al., 1984; Dwulet and Benson, 1984). With the recent advances in gene manipulation techniques, methods of diagnosis of Andrade type FAP at the DNA level have been established(Sasaki et al., 1984; Mita et al., 1984). The diagnosis is based on the fact that a nucleotide substitution responsible for Val-Met interchange results in formation of new restriction sites for Nsi 1 and Bal 1. Kito et al. (1973) discovered the second largest conglomeration of the disease of the world in Nagano Prefecture, Japan. Since that time, we have carried out long-term epidemiological, neurological and biochemical studies on a group of FAP families in Nagano Prefecture.
KeywordsCerebellar Ataxia Nagano Prefecture Familial Amyloid Polyneuropathy Primary Amyloidosis Hiroshima Prefecture
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