Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs

H. Furuya, K. Yoshioka, H. Sasaki, Y. Sakaki, M. Nakazato, H. Matsuo, A. Nakadai, S. I. Ikeda, N. Yanagisawa

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Abstract

A Japanese family with atypical type I familial amyloidotic polyneuropathy (FAP) in Iiyama, Japan, was studied. Most of the family members have dysfunctions of the central nervous system, in addition to typical symptoms of type I FAP. The transthyretin (TTR, also called prealbumin) gene of the atypical FAP (FAP-IY) was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutation responsible for the methionine-for-valine substitution at position 30 of TTR, as in the case of typical type I FAP. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-IY has a genetic background differing from that of the typical type I FAP. These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene.

Original languageEnglish
Pages (from-to)1706-1711
Number of pages6
JournalJournal of Clinical Investigation
Volume80
Issue number6
DOIs
Publication statusPublished - Jan 1 1987

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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    Furuya, H., Yoshioka, K., Sasaki, H., Sakaki, Y., Nakazato, M., Matsuo, H., Nakadai, A., Ikeda, S. I., & Yanagisawa, N. (1987). Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs. Journal of Clinical Investigation, 80(6), 1706-1711. https://doi.org/10.1172/JCI113261