Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25

Masahide Yazaki, Taro Yamashita, John C. Kincaid, John R. Scott, Raymond G. Auger, Peter J. Dyck, Merrill D. Benson

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

We report a 52-year-old woman with a novel transthyretin (TTR) variant serine replacing alanine at residue 25 [Aa25Ser (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.

Original languageEnglish (US)
Pages (from-to)244-250
Number of pages7
JournalMuscle and Nerve
Volume25
Issue number2
DOIs
StatePublished - Feb 12 2002

Keywords

  • Amyloid neuropathy
  • Amyloidosis
  • Germline mosaicism
  • Haplotype
  • Transthyretin mutation

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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  • Cite this

    Yazaki, M., Yamashita, T., Kincaid, J. C., Scott, J. R., Auger, R. G., Dyck, P. J., & Benson, M. D. (2002). Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25. Muscle and Nerve, 25(2), 244-250. https://doi.org/10.1002/mus.10032