A nonsense mutation in PRNP associated with clinical Alzheimer's disease |
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| Authors: | Rita Guerreiro,José Brá s,Aleksandra Wojtas,Rosa Rademakers,John Hardy,Neill Graff-Radford |
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| Affiliation: | 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 Neurology, Mayo Clinic, Jacksonville, FL, USA |
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| 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. |
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| Keywords: | Alzheimer's disease Prion PRNP Nonsense mutation Exome sequencing |
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