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Biomedical subjects

M M Reilly

Publications and source records attributed to M M Reilly.

23 records · Page 2Linked to original sources
PubMed1995

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

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. 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.

Aged↗
PubMed1993

Familial amyloid polyneuropathy.

Familial amyloid polyneuropathy (FAP) is most commonly associated with variant plasma transthyretin, although it has also been described in association with mutant apolipoprotein A-1 and gelsolin. There are now approximately 26 point mutations in the transthyretin gene associated with FAP. Because of the overlapping clinical phenotypes described with these mutations, it is now more appropriate to classify the various forms of FAP according to the underlying genetic defect rather than on clinical grounds. Many questions concerning the amyloidogenic nature of transthyretin and the variability of organ involvement depending on the underlying mutation remain unanswered. The recent use of liver transplantation for treatment appears to be promising.

Amyloid Neuropathies↗