[A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement].
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.
Aoki
K
K
Department of Neurology, Niigata University.
Koike
R
R
Yuasa
T
T
Ikeda
S
S
Tsuji
S
S
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
D011228:Prealbumin