Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.

ABSTRACT:

Objective

To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP.

Methods

We compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference Center from 1988 to 2010. Clinical examination, functional and walking disability scores, nerve conduction studies, and muscle biopsies are reported. We also conducted a comprehensive literature review to further determine the range of phenotypic expression.

Results

By comparison with Portuguese Val30Met FAP, French Ile107Val, Ser77Tyr, and LateVal30Met FAP show

SUBMITTER: Mariani LL 

PROVIDER: S-EPMC4738459 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature