Document Detail

Regional difference and similarity of familial amyloidosis with polyneuropathy in France.
MedLine Citation:
PMID:  22620968     Owner:  NLM     Status:  In-Data-Review    
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 geographical distribution and clinical presentation. There are three additional phenotypes of the neuropathy including multifocal upper limbs neuropathy, ataxic polyneuropathy and motor neuropathy. Patients with Tyr77-TTR are characterized by a late onset (>50 years), frequent ataxic phenotype; they are localized mainly in north of France. The more frequent use of the TTR genetic tests and the French network for FAP will help in the future to improve diagnosis and care.
David Adams; Pierre Lozeron; Marie Theaudin; Zoia Mincheva; Cecile Cauquil; Clovis Adam; Aissatou Signate; Christophe Vial; Thierry Maisonobe; Emilien Delmont; Jerome Franques; Jean-Michel Vallat; Guilhem Sole; Yann Pereon; Arnaud Lacour; Andoni Echaniz-Laguna; Micheline Misrahi; Catherine Lacroix;
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis     Volume:  19 Suppl 1     ISSN:  1744-2818     ISO Abbreviation:  Amyloid     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433802     Medline TA:  Amyloid     Country:  England    
Other Details:
Languages:  eng     Pagination:  61-4     Citation Subset:  IM    
Department of Neurology, CHU Bicetre, Hôpitaux Universitaires Paris Sud.
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