A nonsense mutation in PRNP associated with clinical Alzheimer's disease

Rita Guerreiro, José Brás, Aleksandra Wojtas, Rosa Rademakers, John Hardy, Neill Graff-Radford

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160* rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlighting how very similar genotypes in PRNP result in strikingly different phenotypes.

Original languageEnglish (US)
Pages (from-to)2656.e13-2656.e16
JournalNeurobiology of aging
Volume35
Issue number11
DOIs
StatePublished - Nov 1 2014

Keywords

  • Alzheimer's disease
  • Exome sequencing
  • Nonsense mutation
  • PRNP
  • Prion

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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