Work

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

Year: 2014

Type: article

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.

Source: Neurobiology of Aging

DOI: 10.1016/j.neurobiolaging.2014.05.013

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

Institutions: UCL Queen Square Institute of Neurology, University College London, Mayo Clinic in Florida, Mayo Clinic

Language: English

Topic: Alzheimer's disease research and treatments

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,155