[Indications for simultaneous origin of a German and American family with type II hereditary amyloid neuropathy].
The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin gene. Only two american kindreds (the Maryland/German and the Ohio family) have previously been reported with FAP II starting in the 3rd or 4th decade by sensory disturbances of the hands typically as a carpal tunnel syndrome. We report on a german family with FAP II from the rhine river area south of Mainz. Four members 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.
Seddigh
S
S
Klinik und Poliklinik für Neurologie, Universität Mainz.
Dahmen
N
N
Goebel
H H
HH
Hopf
H C
HC
Benson
M D
MD
D000328:Adult; D017772:Amyloid Neuropathies / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005858:Germany; D006238:Haploidy; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*; D014481:United States
D011228:Prealbumin