title: [Presentations of transthyretin associated familial amyloid polyneuropathy in Argentina].
abstract: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a hereditary disease with variable geographical distribution. The aim of this study was to present our experience with TTR-FAP patients. We retrospectively analyzed nine cases belonging to different families. Diagnostic criteria were based on the combination of compatible clinical picture, histopathological findings and genetic confirmation. Five cases showed the classic presentation and other 4 the late onset variant. The p.Val30Met mutation in the TTR gene was found in 6 cases and p.Ala36Pro, p.Thr60Ala and p.Tyr114Cys in the remaining 3, respectively. The median age of symptom onset was 35 years (26-60 range). Mean time to diagnosis was 4.2 ± 1.5 years. Our patient series showed the heterogeneity in clinical presentation of TTR-FAP in a non-endemic region of South America.
authors.affiliation: Servicio de Neurología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. E-mail: marcelo.chaves@hospitalitaliano.org.ar.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Chaves
authors.forename: Mariela
authors.initials: M
authors.lastname: Bettini
authors.forename: Sebastián
authors.initials: S
authors.lastname: Marciano
authors.forename: Soledad
authors.initials: S
authors.lastname: Sáez
authors.forename: Edgardo
authors.initials: E
authors.lastname: Cristiano
authors.forename: Marcelo
authors.initials: M
authors.lastname: Rugiero
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000628:therapy; D001118:Argentina; D001583:Benzoxazoles / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D016031:Liver Transplantation / Q000706:statistics & numerical data; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D001583:Benzoxazoles; D011228:Prealbumin; C547076:tafamidis
keywords: Argentina; amyloid; familial amyloid polyneuropathy; transthyretin