Demonstration of Transthyretin (Prealbumin) Variants in Italian Kindreds with Familial Amyloidotic Polyneuropathy
A prominent peripheral neuropathy is observed in patients with type I familial amyloidotic polyneuropathy (FAP) of different ethnic origins and geographic locations. Differences are seen, however, in clinical expression among these FAP kindreds. A variant transthyretin (TTR) with a methionine-for-valine substitution at position 30 has been demonstrated in blood plasma, amyloid deposits and cerebrospinal fluid of Portuguese patients with FAP (1,2). The same variant TTR has been demonstrated in FAP patients of Swedish and Greek ancestries (3,4) and in Japanese patients with FAP (5). In contrast, the major protein of amyloid in a Jewish patient was reported to be a TTR variant with a glycine — for threonine substitution of position 49 (6) and later found to have also an isoleucine for phenylalanine substitution at position 33 (7).
KeywordsCyanogen Bromide Familial Amyloidotic Polyneuropathy Italian Origin Portuguese Patient Cyanogen Bromide Fragment
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