title: Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.
abstract: 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.
authors.affiliation: Richmond Institute for Neurology and Neurosurgery, Dublin, Ireland.
authors.forename: H
authors.initials: H
authors.lastname: Staunton
authors.forename: M B
authors.initials: MB
authors.lastname: Davis
authors.forename: R J
authors.initials: RJ
authors.lastname: Guiloff
authors.forename: M
authors.initials: M
authors.lastname: Nakazato
authors.forename: N
authors.initials: N
authors.lastname: Miyazato
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: 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*
chemical_list: D011228:Prealbumin; C072919:transthyretin, Ala(60)-; D004247:DNA