Genetic epidemiology of familial amyloid polyneuropathy [Epidemiologia genética da polineuropatia amiloidótica familiar]

• Type: Article in International Scientific Journal
• Date: 2006

Authors

Alda Sousa (Author) ICBAS

Journal

Title: Sinapse

Vol. 6

Pages: 74-79

ISSN: 1645-281X

Publisher: Sociedade Portuguesa de Neurologia

Indexing

Scopus - 4 Citations

Other information

Authenticus ID: P-007-FRH

Abstract (EN): In its first description of FAP, Andrade analyses in detail several aspects which may enlight the aetiology of the disease. He describes its familial character, since 51 out of 64 patients belong to 12 families. But the remaining 13 patients are isolated, i.e, with no known family history of the same disease. The autosomal dominant inheritance was later established by PE Becker. Soon after the publication in Brain, other descriptions of FAP became known, first from Brazil and then from Japan: they were quite similar to those by Andrade. By the end 60's, after Andersson diagnosed the first Swedish patients with FAP, with onset ages much later than Portuguese patients, it became clear that age-at-onset could be later than initially thought. A further focus in the Balearic Islands was uncovered by Munar-Quÿs in the eighties. The discovery of the biochemical marker and gene analysis made it possible to confirm not only that the same mutation (TTR V30M) is present in all these foci but also that within each population, variation of age-at-onset is greater than first described. Of particular interest for us was the study of variability within the same family, both in Portugal and Sweden. Late-onset cases and their familial aggregation, anticipation of age-at-onset, cases where the disease manifests in the offspring before manifesting in the parent, or those cases where it never shows in the parent, all are excellent tools to study the possibility of genetic modifiers.

Language: Portuguese

Type (Professor's evaluation): Scientific