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. © 2014-IOS Press and the authors.
Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions : Frequency in a cohort of geriatric non-demented subjects / D. Galimberti, B. Arosio, C. Fenoglio, M. Serpente, S.M.G. Cioffi, R. Bonsi, P. Rossi, C. Abbate, D. Mari, E. Scarpini. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 39:1(2014), pp. 19-22.
|Titolo:||Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions : Frequency in a cohort of geriatric non-demented subjects|
GALIMBERTI, DANIELA (Corresponding)
AROSIO, BEATRICE (Secondo)
MARI, DANIELA (Penultimo)
SCARPINI, ELIO ANGELO (Ultimo)
|Parole Chiave:||C9ORF72 hexanucleotide repeat expansion; dementia; elderly; frontotemporal lobar degeneration; penetrance; Psychiatry and Mental Health; Geriatrics and Gerontology; Clinical Psychology|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2014|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3233/JAD-131172|
|Appare nelle tipologie:||01 - Articolo su periodico|