Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.
A cluster of cases of late onset amyloidosis, presenting chiefly with peripheral neuropathy and cardiac failure, has been described in Donegal, north-west Ireland. Molecular genetic and protein analyses show that two new patients from the same region have a mutation in the transthyretin gene previously reported in a family with an Irish ancestor from the Appalachian region of the United States.
Staunton
H
H
Richmond Institute for Neurology and Neurosurgery, Dublin, Ireland.
Davis
M B
MB
Guiloff
R J
RJ
Nakazato
M
M
Miyazato
N
N
Harding
A E
AE
D000368:Aged; D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000150:complications / Q000235:genetics*; D001061:Appalachian Region; D002303:Cardiac Output, Low / Q000150:complications / Q000235:genetics; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009660:Northern Ireland; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin; C072919:transthyretin, Ala(60)-; D004247:DNA