title: First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation.
abstract: We present a Spanish patient with familial amyloidotic polyneuropathy associated with the TTR Thr49Ile mutation previously described in a Japanese patient. This is the first report in a Caucasian patient and the second in the literature. Age of onset at 66 and the clinical picture were similar to the Japanese patient: sensorimotor polyneuropathy, digestive autonomic disturbances, cardiomyopathy and loss of weight. The mutation was diagnosed by DNA sequencing and induced mutation restriction analysis.
authors.affiliation: Amyloid Unit, Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, no. 823, Porto, Portugal. mjsaraiv@ibmc.up.pt
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Saraiva
authors.forename: Miguel
authors.initials: M
authors.lastname: Munar-Qués
authors.forename: Pedro
authors.initials: P
authors.lastname: Modrego
authors.forename: Paul
authors.initials: P
authors.lastname: Moreira
authors.forename: Carles
authors.initials: C
authors.lastname: Viader-Farré
mesh_terms: D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000235:genetics* / Q000503:physiopathology; D001341:Autonomic Nervous System / Q000503:physiopathology; D004064:Digestive System / Q000503:physiopathology; D005260:Female; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D018807:Polymorphism, Single-Stranded Conformational; D011228:Prealbumin / Q000235:genetics*; D013030:Spain; D013912:Threonine / Q000235:genetics; D044465:White People
chemical_list: D011228:Prealbumin; D007532:Isoleucine; D013912:Threonine