REILLY, MM; STAUNTON, H; HARDING, AE; (1995) FAMILIAL AMYLOID POLYNEUROPATHY (TTR-ALA-60) IN NORTH-WEST IRELAND - A CLINICAL, GENETIC, AND EPIDEMIOLOGIC-STUDY. J NEUROL NEUROSUR PS , 59 (1) 45 - 49.
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A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. patients from this region have shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogical and haplotype studies indicate that all known patients with this mutation are related and are descended from a founder in north west Ireland. There is evidence for reduced penetrance of this disorder. A population based study showed that 1.1% of the population in this area in north west Ireland carry the mutation. This has implications in terms of diagnosis, genetic counselling, and treatment in the future.
|Title:||FAMILIAL AMYLOID POLYNEUROPATHY (TTR-ALA-60) IN NORTH-WEST IRELAND - A CLINICAL, GENETIC, AND EPIDEMIOLOGIC-STUDY|
|Keywords:||FAMILIAL AMYLOID POLYNEUROPATHY, AMYLOID, TRANSTHYRETIN, TRANSTHYRETIN AMYLOIDOSIS, LIVER-TRANSPLANTATION, FIBRIL PROTEIN, PREALBUMIN, VARIANT|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology|
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