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Title: Evolving brain functional abnormalities in PSEN1 mutation carriers: A resting and visual encoding fMRI study
Author: Sala Llonch, Roser
Fortea Ormaechea, Juan
Bartrés Faz, David
Bosch, Beatriz
Lladó Plarrumaní, Albert
Peña-Gómez, Cleofé
Antonell, Anna
Castellanos Pinedo, Fernando
Bargalló Alabart, Núria​
Molinuevo, José Luis
Sánchez del Valle Díaz, Raquel
Keywords: Cervell
Mutació (Biologia)
Imatges per ressonància magnètica
Malaltia d'Alzheimer
Mutation (Biology)
Magnetic resonance imaging
Alzheimer's disease
Issue Date: 4-Jun-2013
Publisher: IOS Press
Abstract: PSEN1 mutations are the most frequent cause of familial Alzheimer's disease and show nearly full penetrance. Here we studied alterations in brain function in a cohort of 19 PSEN1 mutation carriers: 8 symptomatic (SMC) and 11 asymptomatic (AMC). Asymptomatic carriers were, on average, 12 years younger than the predicted age of disease onset. Thirteen healthy subjects were used as a control group (CTR). Subjects underwent a 10-min resting-state functional magnetic resonance imaging (fMRI) scan and also performed a visual encoding task. The analysis of resting-state fMRI data revealed alterations in the default mode network, with increased frontal connectivity and reduced posterior connectivity in AMC and decreased frontal and increased posterior connectivity in SMC. During task-related fMRI, SMC showed reduced activity in regions of the left occipital and left prefrontal cortices, while both AMC and SMC showed increased activity in a region within the precuneus/posterior cingulate, all as compared to CTR. Our findings suggest that fMRI can detect evolving changes in brain mechanisms in PSEN1 mutation carriers and support the use of this technique as a biomarker in Alzheimer's disease, even before the appearance of clinical symptoms.
Note: Reproducció del document publicat a:
It is part of: Journal of Alzheimer's Disease, 2013, vol. 36, num. 1, p. 165-175
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ISSN: 1387-2877
Appears in Collections:Articles publicats en revistes (Medicina)
Articles publicats en revistes (Biomedicina)

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