Effective Connectivity Changes in Presymptomatic Alzheimer’s Disease with E280A Presenilin-1 Mutation Gene

Villa-Ochoa, Jhony Alexánder; Sánchez, Frank; Tobón, Carlos; Duque, Jon Edinson; Quiroz, Yakeel T.; Lopera, Francisco; Hernández, Mauricio

doi:10.1007/978-3-319-13117-7_130

Cited by 2 publications

(2 citation statements)

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“…Different to the approach using ERP tasks in PSEN1 mutation carriers [16][17][18]20,64], the resting paradigm diminishes the confounding error due to the performance in symptomatic subjects and it is suitable for clinical trials in AD [73]. Different works using resting EEG have reported differences in E280A mutation carriers when compared against non-carriers.…”

Section: Discussionmentioning

confidence: 99%

“…During a visual recognition memory test, young carriers showed lower ERP positivity in frontal regions and increased positivity in occipital regions compared to control subjects despite an identical behavioral performance [17]. Using a connectivity approach, the encoding of information has been also studied, finding an increase of connectivity in asymptomatic carriers in relation to controls [18,19]. The visual short-term memory, which has been proposed as an early marker for AD, is related to reduction in electrical activity in fronto-central and parieto-occipital regions, in carriers at symptomatic stage [20].…”

Section: Introductionmentioning

confidence: 99%

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Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer’s Disease Detected Using Quantitative Electroencephalography

Villa-Ochoa

Alonso

Duque

et al. 2017

JAD

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Background: Presenilin-1 (PSEN1) mutations are the most common cause of familial early onset Alzheimer's Disease (AD). The PSEN1 E280A (E280A) mutation has an autosomal dominant inheritance and is involved in the production of amyloid-β. In Antioquia, Colombia, there is the largest family group of carriers with E280A mutation. The study of mutation carriers provides an unique opportunity to identify brain changes in stages previous to AD. Electroencephalography (EEG) is a low cost and minimally invasiveness technique that enables the following of brain changes in AD.Objective: To examine how previous reported differences in EEG for Theta and Alpha-2 rhythms in E280A subjects are related to specific regions in cortex and could be tracked across different ages. Methods: EEG signals were acquired during resting state from non-carriers and carriers, asymptomatic and symptomatic, subjects from E280A kindred from Antioquia, Colombia. Independent Component Analysis and inverse solution methods were used to locate brain regions related to differences in Theta and Alpha-2 bands.Results: Independent Component Analysis helps to identify two components, mainly related to the Precuneus, were the differences in Theta and Alpha-2 exist simultaneously at asymptomatic and symptomatic stage. When a ratio between Theta and Alpha-2 is used significant correlations exist with age and a composite cognitive scale. Conclusion:Theta and Alpha-2 rhythms are altered in E280A subjects. The alterations are possible to track at Precuneus regions using EEG, ICA and inverse solution methods.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer’s Disease Detected Using Quantitative Electroencephalography

Villa-Ochoa

Alonso

Duque

et al. 2017

JAD

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Biomarkers identification in Alzheimer’s disease using effective connectivity analysis from electroencephalography recordings

et al. 2016

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Alzheimer's disease (AD) is the most common cause of dementia, which generally affects people over 65 years old. Some genetic mutations induce early onset of AD and help to track the evolution of the symptoms and the physiological changes at different stages of the disease. In Colombia there is a large family group with the PSEN1 E280A mutation with a median age of 46,8 years old for onset of symptoms. AD has been defined as a disconnection syndrome; consequently, network approaches could help to capture different features of the disease. The aim of the current work is to identify a biomarker in AD that helps in the tracking of the neurodegenerative process. Electroencephalography (EEG) was recorded during the encoding of visual information for four groups of individuals: asymptomatic and mild cognitive impairment carriers of the PSEN1 E280A mutation, and two non-carrier control groups. For each individual, the effective connectivity was estimated using the direct Directed Transfer Function and three measurements from graph theory were extracted: input strength, output strength and total strength. A relation between the cognitive status and age of the participants with the connectivity features was calculated. For those connectivity measures in which there is a relation with the age or the clinical scale, the performance as a diagnostic feature was evaluated. We found that output strength connectivity in the right occipito-parietal region is related to age of the carrier groups (r = −0,54, p = 0,0036) and has a high sensitivity and high specificity to distinguish between carriers and non-carriers (67 % sensitivity and 80 % specificity in asymptomatic cases, and 83 % sensitivity and 67 % specificity in symptomatic cases). This relationship indicates that output strength connectivity could be related to the neurodegenerative process of the disease and could help to track the conversion from the asymptomatic stage to dementia.Keywords: Familial Alzheimer disease, electroencephalography, effective connectivity, brain graphs. RESUMENLa enfermedad de Alzheimer (EA) es la causa más común de demencia, la cual afecta generalmente a personas después de los 65 años de edad. Algunas mutaciones genéticas inducen la aparición temprana de EA ayudando a monitorear la evolución de los síntomas y los cambios fisiológicos en diferentes etapas de la enfermedad. En Colombia existe un gran grupo familiar con la mutación PSEN1 E280A, con una edad media de aparición de los síntomas de 46,8 años. La EA ha sido definida como un síndrome de desconexión; en consecuencia, enfoques de redes podrían ayudar a capturar diferentes características de la enfermedad. El objetivo del presente trabajo es identificar un biomarcador en la EA que permita realizar el seguimiento del proceso neurodegenerativo. Se registró una electroencefalografía (EEG) durante la codificación de información visual en cuatro grupos de sujetos: portadores de la mutación PSEN1 E280A asintomáticos y con deterioro cognitivo leve y dos grupos control de no portadores. ...

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Effective Connectivity Changes in Presymptomatic Alzheimer’s Disease with E280A Presenilin-1 Mutation Gene

Cited by 2 publications

References 11 publications

Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer’s Disease Detected Using Quantitative Electroencephalography

Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer’s Disease Detected Using Quantitative Electroencephalography

Biomarkers identification in Alzheimer’s disease using effective connectivity analysis from electroencephalography recordings

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