Usage Information

Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.
H Furuya, … , S Ikeda, N Yanagisawa
H Furuya, … , S Ikeda, N Yanagisawa
Published December 1, 1987
Citation Information: J Clin Invest. 1987;80(6):1706-1711. https://doi.org/10.1172/JCI113261.
View: Text | PDF
Research Article

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

Abstract

A Japanese family with atypical type I familial amyloidotic polyneuropathy (FAP) in Iiyama, Japan was studied. Most of the family members have dysfunctions in 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.

Authors

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

×

Usage data is cumulative from January 2024 through January 2025.

Usage JCI PMC
Text version 110 3
PDF 72 26
Figure 0 2
Scanned page 196 10
Citation downloads 51 0
Totals 429 41
Total Views 470
(Click and drag on plot area to zoom in. Click legend items above to toggle)

Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.

Various methods are used to distinguish robotic usage. For example, Google automatically scans articles to add to its search index and identifies itself as robotic; other services might not clearly identify themselves as robotic, or they are new or unknown as robotic. Because this activity can be misinterpreted as human readership, data may be re-processed periodically to reflect an improved understanding of robotic activity. Because of these factors, readers should consider usage information illustrative but subject to change.

Advertisement