Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
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ABSTRACT:
SUBMITTER: Guerreiro R
PROVIDER: S-EPMC4175176 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Publications
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Guerreiro Rita R Brás José J Wojtas Aleksandra A Rademakers Rosa R Hardy John J Graff-Radford Neill N
Neurobiology of aging 20140527 11
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. ...[more]
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