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Observational Study
. 2021;83(3):1233-1249.
doi: 10.3233/JAD-210254.

BIOFACE: A Prospective Study of Risk Factors, Cognition, and Biomarkers in a Cohort of Individuals with Early-Onset Mild Cognitive Impairment. Study Rationale and Research Protocols

Ester Esteban de Antonio  1 , Alba Pérez-Cordón  1 , Silvia Gil  1 , Adelina Orellana  1   2 , Amanda Cano  1   2 , Montserrat Alegret  1   2 , Ana Espinosa  1   2 , Emilio Alarcón-Martín  1 , Sergi Valero  1   2 , Joan Martínez  1 , Itziar de Rojas  1   2 , Óscar Sotolongo-Grau  1 , Elvira Martín  1 , Assumpta Vivas  3 , Marta Gomez-Chiari  3 , Miguel Ángel Tejero  3 , Mireia Bernuz  4 , Lluis Tárraga  1   2 , Agustín Ruiz  1   2 , Marta Marquié  1   2 , Mercè Boada  1   2 ; BIOFACE study group
Collaborators, Affiliations
Observational Study

BIOFACE: A Prospective Study of Risk Factors, Cognition, and Biomarkers in a Cohort of Individuals with Early-Onset Mild Cognitive Impairment. Study Rationale and Research Protocols

Ester Esteban de Antonio et al. J Alzheimers Dis. 2021.

Abstract

Background: Mild cognitive impairment (MCI) due to Alzheimer's disease (AD) diagnosis is based on cerebrospinal fluid (CSF) or neuroimaging biomarkers. Currently, non-invasive and inexpensive blood-based biomarkers are being investigated, such as neuronal-derived plasma exosomes (NPEs). Neuroinflammation and early vascular changes have been described in AD pathogenesis and can be traced in plasma and NPEs. However, they have not been studied in early onset MCI (EOMCI).

Objective: To describe the rationale, design, and baseline characteristics of the participants from the BIOFACE cohort, a two-year observational study on EOMCI conducted at Fundació ACE. The study goal is to characterize the different phenotypes from a clinical, neuropsychological, and biomarker point of view and to investigate the CSF and plasma proteomics as well as the role of NPEs as early biomarkers of AD.

Methods: Participants underwent extended neurological and neuropsychological batteries, multimodal biomarkers including brain MRI, blood, saliva, CSF, anthropometric, and neuro-ophthalmological examinations.

Results: Ninety-seven patients with EOMCI were recruited. 59.8%were women. Mean age at symptom onset was 57 years; mean MMSE was 28. First degree and presenile family history of dementia was present in 60.8%and 15.5%, respectively. Depressive and anxiety disorders along with vascular risk factors were the most frequent comorbidities. 29%of participants were APOE ɛ4 carriers, and 67%showed a CSF normal ATN profile.

Conclusion: BIOFACE is a two-year study of clinical, cognition, and biomarkers that will shed light on the physiopathology and the potential utility of plasma and NPEs as non-invasive early diagnostic and prognostic biomarkers in people younger than 65 years.

Keywords: Alzheimer’s disease; biomarkers; dementia; early onset Alzheimer’s disease; exosomes; mild cognitive impairment; presenile; proteomics.

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Conflict of interest statement

Authors’ disclosures available online (https://www.j-alz.com/manuscript-disclosures/21-0254r2).

Figures

Fig. 1
Fig. 1
Assessments scheduled in the three consecutive annual visits.
See this image and copyright information in PMC

References

    1. Vieira RT, Caixeta L, Machado S, Silva AC, Nardi AE, Arias-Carrión O, Carta MG (2013) Epidemiology of early-onset dementia: A review of the literature. Clin Pract Epidemiol Ment Health 9, 88–95. - PMC - PubMed
    1. Rossor MN, Fox NC, Mummery CJ, Schott JM, Warren JD (2010) The diagnosis of young-onset dementia. Lancet Neurol 9, 793–806. - PMC - PubMed
    1. Mendez MF (2012) Early-onset Alzheimer’s disease: Non-amnestic subtypes and type 2 AD. Arch Med Res 43, 677–685. - PMC - PubMed
    1. Petersen RC (2004) Mild cognitive impairment as a diagnostic entity. J Intern Med 256, 183–194. - PubMed
    1. Ye BS, Seo SW, Lee Y, Kim SY, Choi SH, Lee YM, Kim DH, Han HJ, Na DL, Kim EJ (2012) Neuropsychological performance and conversion to Alzheimer’s disease in early-compared to late-onset amnestic mild cognitive impairment: CREDOS study. Dement Geriatr Cogn Disord 34, 156–166. - PubMed

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