Genetic and clinical studies of japanese patients with familial amyloid polyneuropathy

Toshihide Harada, Shozo Kito, Masanori Shimoyama, Sadao Katayama, Hiroyuki Sasaki, Hirokazu Furuya, Katsuji Yoshioka, Yoshiyuki Sakaki

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Abstract

We examined the DNA analysis of familial amyloid polyneuropathy (FAP) patients and their families from Nagano and Hiroshima prefectures in Japan using recombinant DNA techniques and compared the results with the clinical features. This study indicated that the valine-methionine change prealbumin gene was closely related to the clinical features of type 1 FAP. The DNA analysis was valuable for the definite diagnosis of type 1 FAP even in sporadic and asymptomatic cases. FAP patients from Iiyama city and Ogawa village area in the Nagano prefecture had the same mutation despite differences in clinical features. The onset of the sporadic FAP cases was later than that of the FAP patients who had family histories.

Original languageEnglish
Pages (from-to)48-52
Number of pages5
JournalEuropean Neurology
Volume29
Issue number1
DOIs
Publication statusPublished - Jan 1 1989

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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    Harada, T., Kito, S., Shimoyama, M., Katayama, S., Sasaki, H., Furuya, H., Yoshioka, K., & Sakaki, Y. (1989). Genetic and clinical studies of japanese patients with familial amyloid polyneuropathy. European Neurology, 29(1), 48-52. https://doi.org/10.1159/000116392