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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 1995

Reilly M M, Staunton H, Harding A E

Abstract excerpt

A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. Two patients from this region have been shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogic...

Topics

Aged
Amyloid Neuropathies
Base Sequence
Female
Founder Effect
Gene Frequency
Genetic Carrier Screening
Haplotypes
Humans
Ireland
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymorphism, Genetic

Prealbumin

Prevalence

Source

Open in PubMed Open full text

Identifiers

PMID: 7608709
DOI: 10.1136/jnnp.59.1.45
PMCID: PMC1073600

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7608709-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.PMID 7608709Read ↗

Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.Semantic proximity Read ↗

Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.Semantic proximity Read ↗

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.Semantic proximity Read ↗

Phenotype of a second Irish variant causing hereditary amyloidogenic transthyretin amyloidosis.Semantic proximity Read ↗

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.Semantic proximity Read ↗

Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant.Semantic proximity Read ↗

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.Semantic proximity Read ↗

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Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.Semantic proximity Read ↗

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