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Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25
Author(s) -
Yazaki Masahide,
Yamashita Taro,
Kincaid John C.,
Scott John R.,
Auger Raymond G.,
Dyck Peter J.,
Benson Merrill D.
Publication year - 2002
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10032
Subject(s) - proband , transthyretin , haplotype , genetics , medicine , mutation , serine , transversion , allele , biology , pathology , gene , phosphorylation
We report a 52‐year‐old woman with a novel transthyretin (TTR) variant serine replacing alanine at residue 25 [Ala25Ser (Serine 25)], who showed a unique clinical picture with a relatively acute onset neuropathy within a few days of an influenza vaccination, progressing to a severe degree within 2 years. Sural nerve biopsy revealed amyloid deposition in the endoneurium. Sequencing of the proband's DNA revealed a G to T transversion at the first position of codon 25 of TTR gene. DNA analysis of this family showed the same mutation in her older sister and a niece, but her parents did not have the mutation. Haplotype analysis revealed the mutation to be clearly linked to haplotype III allele inherited from the proband's father. These results indicate this novel Serine 25 mutation originated in the paternal germline mosaicism. It is possible that the vaccination had an influence on the unique clinical picture, but this remains uncertain. © 2002 John Wiley & Sons, Inc. Muscle Nerve 25: 244–250, 2002 DOI 10.1002/mus.10032