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

doi:10.1016/j.neurobiolaging.2014.05.013

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Article

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

Neurobiology of aging - 1 Nov 2014

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

Abstract excerpt

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...

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Identifiers

PMID: 24958194
DOI: 10.1016/j.neurobiolaging.2014.05.013
PMCID: PMC4175176

Genes

PRNP

Variants

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