Abbreviations: FAP=familial amyloidotic polyneuropathy; TTR=transthyretin Correspondence:

Transthyretin (TTR) familial amyloid polyneuropathies (FAP) are autosomal dominant devastating afflictions, first described in Portugal, later in Japan and Sweden, now recognized worldwide. The TTR-Val30Met mutation is the most common, and depending on the geographic origin, a wide variation in age...

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Bibliographic Details
Main Authors: S-erik Lundgren, Ole B Suhr Urban Hellman, Flora Alarcon, Violaine Planté-bordeneuve, Urban Hellman B. Sc
Other Authors: The Pennsylvania State University CiteSeerX Archives
Format: Text
Language:English
Published: 2009
Subjects:
Key words
tranthyretin
amyloidosis
genetics
penetrance
Swedish families
Northern Sweden
Piteå
Online Access:http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.400.1443
http://hal.archives-ouvertes.fr/docs/00/35/97/58/PDF/NAH_Suede_def.pdf
Description
Summary:Transthyretin (TTR) familial amyloid polyneuropathies (FAP) are autosomal dominant devastating afflictions, first described in Portugal, later in Japan and Sweden, now recognized worldwide. The TTR-Val30Met mutation is the most common, and depending on the geographic origin, a wide variation in age at onset of the disease is observed. In Europe, northern Sweden is the second most important area of the disease, and a late age of onset of 56 years has been reported. The present work aims to estimate the penetrance in TTR-Val30Met Swedish families. Genealogical investigations, clinical data and genotyping were obtained in 77 TTR-Val30Met inserm-00359758, version 1- 9 Feb 2009 Swedish families. The penetrance in Val30Met carriers and variation within the endemic area, according to gender and transmitting parents was calculated by a newly developed bias free method. The penetrance estimates were low i.e.1.7 % and 22 % at age 30 and 60 years, respectively and far from complete (69%), by age 90 years. Differences between Piteå and Skellefteå

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