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. [10.3233/JAD-131172]

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

D. Galimberti
;
B. Arosio
Secondo
;
C. Fenoglio;M. Serpente;R. Bonsi;C. Abbate;D. Mari
Penultimo
;
E. Scarpini
Ultimo
2014

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. © 2014-IOS Press and the authors.
C9ORF72 hexanucleotide repeat expansion; dementia; elderly; frontotemporal lobar degeneration; penetrance; Psychiatry and Mental Health; Geriatrics and Gerontology; Clinical Psychology
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/423544
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