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

作者：Guerreiro Rita; Bras Jose; Wojtas Aleksandra; Rademakers Rosa; Hardy John^*; Graff Radford Neill

来源：Neurobiology of Aging, 2014, 35(11): 2656.e13.

DOI：10.1016/j.neurobiolaging.2014.05.013

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

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 high-lighting how very similar genotypes in PRNP result in strikingly different phenotypes.

• 出版日期2014-11