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J Alzheimers Dis. 2014;39(1):19-22. doi: 10.3233/JAD-131172.

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

Author information

1
Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.
2
Geriatric Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.

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.

KEYWORDS:

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

PMID:
24121957
DOI:
10.3233/JAD-131172
[Indexed for MEDLINE]
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