A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment

K. Matsuzono, Y. Ikeda, W. Liu, T. Kurata, S. Deguchi, K. Deguchi, Koji Abe

Research output: Contribution to journalArticle

16 Citations (Scopus)
Original languageEnglish
JournalEuropean Journal of Neurology
Volume20
Issue number5
DOIs
Publication statusPublished - May 2013

Keywords

  • 2-bp deletion in codon 178
  • Familial case
  • HSAN
  • Novel gene mutation
  • Pan-autonomic failure
  • Prion disease
  • Sensory neuropathy
  • Stop codon at codon 195

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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