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

Daniela Galimberti, Beatrice Arosio, Chiara Fenoglio, Maria Serpente, Sara M G Cioffi, Rossana Bonsi, Paolo Rossi, Carlo Abbate, Daniela Mari, Elio Scarpini

Research output: Contribution to journalArticle

Abstract

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 recruitment. We have not had information on her condition since that time. These results suggest that the penetrance of the mutation is definitely incomplete.

Original languageEnglish
Pages (from-to)19-22
Number of pages4
JournalJournal of Alzheimer's Disease
Volume39
Issue number1
DOIs
Publication statusPublished - 2014

Keywords

  • C9ORF72 hexanucleotide repeat expansion
  • dementia
  • elderly
  • frontotemporal lobar degeneration
  • penetrance

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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