Indication of a common origin of German and American families with Familial Amyloidneuropathy Type II

The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 m utations of the transthyretin gene have been found to be responsible for di fferent clinical forms of amyloidosis including familial FAP. FAP II is cau sed by a mutation on the codon 58 of the transthyretin gene. Only two ameri can kindreds (the Maryland/German and the Ohio family) have previously been reported with FAP II starting in the 3rd or 4th decade by sensory disturba nces of the hands typically as a carpal tunnel syndrome. We report on a ger man family with FAP II from the rhine river area south of Mainz. Four membe rs with typical clinical symptoms showed the histidine 58 mutation like the american families with FAP II. Haplotype analysis showed that all of them were haplotype III like the american patients indicating that the american and german kindreds have a genetic linkage and common familial roots.