title: [A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement].
abstract: We report a 65-year-old man with amyloidotic polyneuropathy, who first suffered from heart failure at the age of 57, 3 years before the onset of neurological symptoms. He had no obvious family history. We analysed the transthyretin gene of the patient and 6 asymptomatic family members using polymerase chain reaction (PCR). The single amino acid substitution of a methionine for valine at position 30, which is a common mutation of Japanese type I FAP patients, was found from the patient and his sister of 47 years. Though Type I FAP patients often have cardiac conduction block, they rarely have signs of heart failure until the end stage of the disease. This is the first report of Type I FAP with severe myocardial involvement, in which TTR mutation at position 30 was confirmed. The result revealed the clinical variation of Type I FAP.
authors.affiliation: Department of Neurology, Niigata University.
authors.forename: K
authors.initials: K
authors.lastname: Aoki
authors.forename: R
authors.initials: R
authors.lastname: Koike
authors.forename: T
authors.initials: T
authors.lastname: Yuasa
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D000368:Aged; D017772:Amyloid Neuropathies / Q000235:genetics*; D000686:Amyloidosis / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D009154:Mutation; D011228:Prealbumin / Q000235:genetics
chemical_list: D011228:Prealbumin