The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects

@article{Bo2003The1C,
  title={The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects},
  author={R. del Bo and G. Comi and R. Giorda and M. Crimi and F. Locatelli and F. Martinelli-Boneschi and U. Pozzoli and E. Castelli and N. Bresolin and G. Scarlato},
  journal={Journal of Neurology},
  year={2003},
  volume={250},
  pages={688-692}
}
  • R. del Bo, G. Comi, +7 authors G. Scarlato
  • Published 2003
  • Biology, Medicine
  • Journal of Neurology
  • Abstract. Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. Down syndrome (DS) is associated with mental retardation and development of Alzheimer-like brain abnormalities. In the present study, we investigated the role of the PRNP polymorphism in 122 relatively young Italian DS patients. Allele frequencies of DS subjects did not differ from… CONTINUE READING
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