Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects.

@article{Galimberti2014IncompletePO,
  title={Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects.},
  author={Daniela Galimberti and Beatrice Arosio and Chiara Fenoglio and Maria Serpente and Sara M. G. Cioffi and Rossana Bonsi and Paolo Dionigi Rossi and Carlo Abbate and Daniela Mari and Elio Scarpini},
  journal={Journal of Alzheimer's disease : JAD},
  year={2014},
  volume={39 1},
  pages={19-22}
}
We genotyped for the C9ORF72 hexanucleotide repeat expansion a population of 156 non-demented elderly subjects, recruited in a geriatric unit as control group for association studies in patients with Alzheimer's disease (AD), and found two carriers (1.2%). The first was referred for subjective memory complaints, at age 81. He was followed up until age 84 and did not develop dementia. The second was an 80-year old volunteer (spouse and caregiver of a patient with AD), non-demented at time of… CONTINUE READING