A novel prion disease associated with diarrhea and autonomic neuropathy

Simon Mead, Sonia Gandhi, Jon Beck, Diana Caine, Dilip Gajulapalli, Dillip Gallujipali, Christopher Carswell, Harpreet Hyare, Susan Joiner, Hilary Ayling, Tammaryn Lashley, Jacqueline M Linehan, Huda Al-Doujaily, Bernadette Sharps, Tamas Revesz, Malin K Sandberg, Mary M Reilly, Martin Koltzenburg, Alastair Forbes, Peter RudgeSebastian Brandner, Jason D Warren, Jonathan D F Wadsworth, Nicholas W Wood, Janice L Holton, John Collinge

Research output: Contribution to journalArticle

82 Citations (Scopus)

Abstract

Human prion diseases, although variable in clinicopathological phenotype, generally present as neurologic or neuropsychiatric conditions associated with rapid multifocal central nervous system degeneration that is usually dominated by dementia and cerebellar ataxia. Approximately 15% of cases of recognized prion disease are inherited and associated with coding mutations in the gene encoding prion protein (PRNP). The availability of genetic diagnosis has led to a progressive broadening of the recognized spectrum of disease.
Original languageEnglish
Pages (from-to)1904-1914
Number of pages11
JournalNew England Journal of Medicine
Volume369
Issue number20
DOIs
Publication statusPublished - 14 Nov 2013

Keywords

  • Animals
  • Autonomic Nervous System Diseases
  • Brain
  • Diarrhea
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Mice
  • Mice, Transgenic
  • Mutation
  • Pedigree
  • Phenotype
  • Plaque, Amyloid
  • Prion Diseases
  • Prions

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