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Incidental findings on brain MRI of cognitively normal first-degree descendants of patients with Alzheimer's disease: a cross-sectional analysis from the ALFA (Alzheimer and Families) project
  1. Anna Brugulat-Serrat1,
  2. Santiago Rojas1,2,
  3. Nuria Bargalló3,4,
  4. Gerardo Conesa5,
  5. Carolina Minguillón1,
  6. Karine Fauria1,
  7. Nina Gramunt1,
  8. José Luis Molinuevo1,
  9. Juan Domingo Gispert1,6
  1. 1Barcelonaβeta Brain Research Center, Pasqual Maragall Foundation, Barcelona, Spain
  2. 2Unit of Human Anatomy and Embryology, Faculty of Medicine, Department of Morphological Sciences, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Spain
  3. 3Magnetic Resonance Imaging Core Facility, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
  4. 4Centre Mèdic Diagnòstic Alomar, Barcelona, Spain
  5. 5Servicio de Neurocirugía, Hospital del Mar, Barcelona, Spain
  6. 6Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina (CIBER-BBN), Zaragoza, Spain
  1. Correspondence to Dr Juan Domingo Gispert; jdgispert{at}fpmaragall.org

Abstract

Objectives To describe the prevalence of brain MRI incidental findings (IF) in a cohort of cognitively normal first-degree descendants of patients with Alzheimer's disease (AD).

Design Cross-sectional observational study.

Setting All scans were obtained with a 3.0 T scanner. Scans were evaluated by a single neuroradiologist and IF recorded and categorised. The presence of white matter hyperintensities (WMH) was determined with the Fazekas scale and reported as relevant if ≥2.

Participants 575 participants (45–75 years) underwent high-resolution structural brain MRI. Participants were cognitively normal and scored over the respective cut-off values in all the following neuropsychological tests: Mini-Mental State Examination (≥26), Memory Impairment Screen (≥6), Time Orientation Subtest of the Barcelona Test II (≥68), verbal semantic fluency (naming animals ≥12). Clinical Dementia Rating (CDR) had to be 0.

Results 155 participants (27.0%) presented with at least one IF. Relevant WMH were present in 7.8% of the participants, and vascular abnormalities, cyst and brain volume loss in 10.7%, 3.1% and 6.9% of the study volunteers, respectively. Neoplastic brain findings were found in 2.4% of participants and within these, meningiomas were the most common (1.7%) and more frequently found in women. A positive correlation between increasing age and the presence of IF was found. Additionally, brain atrophy greater than that expected by age was significantly more prevalent in participants without a parental history of AD.

Conclusions Brain MRIs of healthy middle-aged participants show a relatively high prevalence of IF even when study participants have been screened for subtle cognitive alterations. Most of our participants are first-degree descendants of patients with AD, and therefore these results are of special relevance for novel imaging studies in the context of AD prevention in cognitively healthy middle-aged participants.

Trial registration number NCT02198586.

  • Alzheimer's disease
  • prevention
  • cerebral MRI
  • incidental finding
  • healthy
  • late middle-aged

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Footnotes

  • AB-S and SR contributed equally.

  • Contributors JLM, KF and JDG made substantial contributions to the conception and design of the work. AB, NB, GC, CM, KF, JLM and JDG contributed to the acquisition and analysis of data. AB, SR, NB, CM, KF, NG, JLM and JDG were involved in the interpretation of data for the work. AB, SR, CM, NG, JLM and JDG were the main contributors to drafting the manuscript that was then critically revised for important intellectual content by all its co-authors. All co-authors approved the final version of the manuscript to be submitted and are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The research leading to these results has received funding from ‘la Caixa’ Foundation. Additional funding was obtained from Fondo de Investigación Sanitaria (FIS), Instituto de Salud Carlos III (ISC-III) under grant PI12/00326 and Barcelona city council under agreement #0724/13 and 0940/16. JDG holds a ‘Ramón y Cajal’ fellowship (RYC-2013-13054).

  • Competing interests JLM has provided scientific advice or has been an investigator or data monitoring board member receiving consultancy fees from: Novartis, Pfizer, Eisai, Janssen-Cilag, Lundbeck, Roche, Bayer, Bristol-Myers Squibb, GE Health Care, Merz, MSD, GlaxoSmithKline, Astra-Zeneca, Avid, Lilly, Boehringer-Inghelmein, Biokit, Piramal, IBL and Fujireibio-Europe.

  • Ethics approval Clinical Research Ethical Committee, Parc de Salut Mar, Barcelona.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.