Molecular Analysis of a Variant Type of Familial Amyloidotic Polyneuropathy (FAP) Showing Cerebellar Ataxia and Pyramidal Tract Signs
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 CNS, in addition to neuropathy. The transthyretin (TTR) gene of this atypical type I FAP was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutations responsible for the methionine-for-valine substitution at position 30 of TTR. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-IY has a genetic background differing from that of typical type I FAP.
These observations lead to the consideration that a genetic factor (s) involved in the dysfunction of the CNS may locate in a chromosome region in close proximity to the TTR gene.
KeywordsCerebellar Ataxia Typical Type Familial Amyloidotic Polyneuropathy Atypical Type Spinocerebellar Degeneration
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