Evolving Brain Functional Abnormalities in PSEN1 Mutation Carriers: A Resting and Visual Encoding fMRI Study


Por: Sala-Llonch, R, Fortea, J, Bartres-Faz, D, Bosch, B, Llado, A, Pena-Gomez, C, Antonell, A, Castellanos-Pinedo, F, Bargallo, N, Molinuevo, JL, Sanchez-Valle, R

Publicada: 1 ene 2013
Resumen:
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.

Filiaciones:
Sala-Llonch, R:
 Univ Barcelona, Dept Psychiat & Clin Psychobiol, Barcelona, Spain

 IDIBAPS, Barcelona, Spain

Fortea, J:
 Hosp Clin Barcelona, Dept Neurol, Alzheimers Dis & Other Cognit Disorders Unit, E-08036 Barcelona, Spain

 Hosp Santa Creu & Sant Pau, Dept Neurol, Memory Unit, Barcelona, Spain

Bartres-Faz, D:
 Univ Barcelona, Dept Psychiat & Clin Psychobiol, Barcelona, Spain

 IDIBAPS, Barcelona, Spain

Bosch, B:
 IDIBAPS, Barcelona, Spain

 Hosp Clin Barcelona, Dept Neurol, Alzheimers Dis & Other Cognit Disorders Unit, E-08036 Barcelona, Spain

Llado, A:
 IDIBAPS, Barcelona, Spain

 Hosp Clin Barcelona, Dept Neurol, Alzheimers Dis & Other Cognit Disorders Unit, E-08036 Barcelona, Spain

Pena-Gomez, C:
 Univ Barcelona, Dept Psychiat & Clin Psychobiol, Barcelona, Spain

Antonell, A:
 IDIBAPS, Barcelona, Spain

 Hosp Clin Barcelona, Dept Neurol, Alzheimers Dis & Other Cognit Disorders Unit, E-08036 Barcelona, Spain

Castellanos-Pinedo, F:
 Hosp Virgen del Puerto, Dept Neurol, Plasencia, Spain

Bargallo, N:
 IDIBAPS, Barcelona, Spain

 Hosp Clin Barcelona, Dept Radiol, E-08036 Barcelona, Spain

Molinuevo, JL:
 IDIBAPS, Barcelona, Spain

 Hosp Clin Barcelona, Dept Neurol, Alzheimers Dis & Other Cognit Disorders Unit, E-08036 Barcelona, Spain

Sanchez-Valle, R:
 IDIBAPS, Barcelona, Spain

 Hosp Clin Barcelona, Dept Neurol, Alzheimers Dis & Other Cognit Disorders Unit, E-08036 Barcelona, Spain
ISSN: 13872877
Editorial
IOS PRESS, NIEUWE HEMWEG 6B, 1013 BG AMSTERDAM, NETHERLANDS, NL
Tipo de documento: Article
Volumen: 36 Número: 1
Páginas: 165-175
WOS Id: 000320030200015
ID de PubMed: 23579331
imagen Green Published

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