Regional difference and similarity of familial amyloidosis with polyneuropathy in France.

@article{Adams2012RegionalDA,
  title={Regional difference and similarity of familial amyloidosis with polyneuropathy in France.},
  author={David H Adams and Pierre Lozeron and Marie Th{\'e}audin and Zoia Mincheva and C{\'e}cile Cauquil and Clovis Adam and Aissatou Signate and Christophe Vial and Thierry Maisonobe and Emilien Delmont and J{\'e}r{\^o}me Franques and Jean-michel Vallat and Guilhem Sol{\'e} and Yann P{\'e}r{\'e}on and Arnaud Lacour and Andoni Echaniz-Laguna and Micheline Misrahi and Catherine Lacroix},
  journal={Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis},
  year={2012},
  volume={19 Suppl 1},
  pages={61-4}
}
Familial amyloidosis with polyneuropathy (FAP) in France have a large genetic heterogeneity with 29 transthyretin (TTR) gene mutations; Met30-TTR is the most frequent one (62%); followed by Tyr77-TTR (11.8%) and Phe77-TTR (6.2%). Analysis of 60 FAP patients diagnosed during the period 2008-2010 showed amyloid polyneuropathy was initially suspected in only 38% patients. TTR Met30 of Portuguese ancestry is different from TTR Met30 of non Portuguese ancestry and other non Met30 variants in… CONTINUE READING