Format

Send to

Choose Destination
Neurobiol Aging. 2014 Nov;35(11):2656.e13-2656.e16. doi: 10.1016/j.neurobiolaging.2014.05.013. Epub 2014 May 27.

Nonsense mutation in PRNP associated with clinical Alzheimer's disease.

Author information

1
Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, England.
2
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
3
Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, England. Electronic address: j.hardy@ucl.ac.uk.
4
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

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.

KEYWORDS:

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

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center