Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

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
Published in:Amyloid
Main Authors: Hellman, Urban, Alarcon, Flora, Lundgren, Hans Eric, Suhr, Ole, Bonaïti-Pellié, Catherine, Planté-Bordeneuve, Violaine
Format: Text
Language:English
Published: Informa Healthcare 2008
Subjects:
Article
Northern Sweden
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2738945
http://www.ncbi.nlm.nih.gov/pubmed/18925456
https://doi.org/10.1080/13506120802193720
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.

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