title: Regional difference and similarity of familial amyloidosis with polyneuropathy in France.
abstract: 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.
authors.affiliation: Department of Neurology, CHU Bicetre, Hôpitaux Universitaires Paris Sud, France. david.adams@bct.aphp.fr
authors.forename: David
authors.initials: D
authors.lastname: Adams
authors.forename: Pierre
authors.initials: P
authors.lastname: Lozeron
authors.forename: Marie
authors.initials: M
authors.lastname: Theaudin
authors.forename: Zoia
authors.initials: Z
authors.lastname: Mincheva
authors.forename: Cecile
authors.initials: C
authors.lastname: Cauquil
authors.forename: Clovis
authors.initials: C
authors.lastname: Adam
authors.forename: Aissatou
authors.initials: A
authors.lastname: Signate
authors.forename: Christophe
authors.initials: C
authors.lastname: Vial
authors.forename: Thierry
authors.initials: T
authors.lastname: Maisonobe
authors.forename: Emilien
authors.initials: E
authors.lastname: Delmont
authors.forename: Jerome
authors.initials: J
authors.lastname: Franques
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
authors.forename: Guilhem
authors.initials: G
authors.lastname: Sole
authors.forename: Yann
authors.initials: Y
authors.lastname: Pereon
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lacour
authors.forename: Andoni
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.forename: Micheline
authors.initials: M
authors.lastname: Misrahi
authors.forename: Catherine
authors.initials: C
authors.lastname: Lacroix
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D028227:Amyloid Neuropathies, Familial / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005602:France / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype