Literature DB >> 1664269

Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.

H Staunton1, M B Davis, R J Guiloff, M Nakazato, N Miyazato, A E Harding.   

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.

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Year:  1991        PMID: 1664269     DOI: 10.1093/brain/114.6.2675

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


  3 in total

1.  Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.

Authors:  M M Reilly; H Staunton; A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-07       Impact factor: 10.154

2.  Transthyretin gene mutations in British and French patients with amyloid neuropathy.

Authors:  K Bhatia; M Reilly; D Adams; M B Davis; C H Hawkes; P K Thomas; G Said; A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-06       Impact factor: 10.154

3.  Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

Authors:  Volha Skrahina; Ulrike Grittner; Christian Beetz; Thomas Skripuletz; Martin Juenemann; Heidrun H Krämer; Katrin Hahn; Andreas Rieth; Volker Schaechinger; Monica Patten; Christian Tanislav; Stephan Achenbach; Birgit Assmus; Fabian Knebel; Stefan Gingele; Aliaksandr Skrahin; Jörg Hartkamp; Toni M Förster; Sabine Roesner; Catarina Pereira; Arndt Rolfs
Journal:  Ann Med       Date:  2021-12       Impact factor: 4.709

  3 in total

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