First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation.
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.
Saraiva
Maria João
MJ
Amyloid Unit, Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, no. 823, Porto, Portugal. mjsaraiv@ibmc.up.pt
Munar-Qués
Miguel
M
Modrego
Pedro
P
Moreira
Paul
P
Viader-Farré
Carles
C
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
D011228:Prealbumin; D007532:Isoleucine; D013912:Threonine