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Diagnostics
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Novel Biomarkers for Alzheimer’s Disease and Other Neurodegenerative Diseases
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Novel Biomarkers for Alzheimer’s Disease and Other Neurodegenerative Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 2411

Special Issue Editors

Dr. Carlo Gabelli

E-Mail Website
Guest Editor
Regional Brain Aging Center, University-Hospital of Padova (CRIC), Department of Neuroscience, via Giustiniani 2, 35128 Padova, Italy
Interests: Alzheimer’s disease; ApoE; risk factors; dementia prevention; biomarkers of neurodegeneration
Prof. Dr. Mario Plebani

E-Mail Website
Guest Editor
Department of Laboratory Medicine, University-Hospital of Padova, via Giustinani 2 , 35128 Padova, Italy
Interests: biomarkers of neurodegeneration; clinical biochemistry of Alzheimer; quality in laboratory medicine; translational medicine

Special Issue Information

Dear Colleagues,

Alzheimer's disease (AD) is an age-related neurodegenerative disorder causing severe disability and important socio-economic burden with no cure available to date. Therefore, the early detection and prevention of Alzheimer’s disease (AD) is important. The precise definition of the diagnosis and of the progression of the disease is paramount to understand how and when to act to prevent and treat neurodegeneration.

This Special Issue offers an open-access platform that aims to bring together a collection of original research and review articles addressing novel biomarkers, techniques, and approaches that will be valuable and helpful for the diagnosis or treatment of Alzheimer's disease and other neurodegenerative diseases.

We look forward to receiving your contributions.

Dr. Carlo Gabelli
Prof. Dr. Mario Plebani
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Alzheimer’s disease
  • biomarkers
  • neurodegeneration
  • neuroinflammation
  • miRNA
  • tau
  • exosomes

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Published Papers (3 papers)

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Research

15 pages, 3712 KiB  
Article
Detection of Brain-Derived Cell-Free DNA in Plasma
by Camilla Pellegrini, Francesco Ravaioli, Sara De Fanti, Chiara Pirazzini, Chiara D’Silva, Paolo Garagnani, Claudio Franceschi, Francesca Bonifazi, Pier Luigi Zinzani, Massimiliano Bonafè, Maria Guarino, Raffaele Lodi, Pietro Cortelli, Caterina Tonon, Micaela Mitolo, Luisa Sambati, Luca Morandi and Maria Giulia Bacalini
Diagnostics 2024, 14(22), 2541; https://doi.org/10.3390/diagnostics14222541 - 13 Nov 2024
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Abstract
Background: Neuronal loss is a major pathological feature of neurodegenerative diseases. The analysis of plasma cell-free DNA (cfDNA) is an emerging approach to track cell death events in a minimally invasive way and from inaccessible areas of the body, such as the [...] Read more.
Background: Neuronal loss is a major pathological feature of neurodegenerative diseases. The analysis of plasma cell-free DNA (cfDNA) is an emerging approach to track cell death events in a minimally invasive way and from inaccessible areas of the body, such as the brain. Previous studies showed that DNA methylation (DNAm) profiles can be used to map the tissue of origin of cfDNA and to identify molecules released from the brain upon cell death. The aim of the present study is to contribute to this research field, presenting the development and validation of an assay for the detection of brain-derived cfDNA (bcfDNA). Methods: To identify CpG sites with brain-specific DNAm, we compared brain and non-brain tissues for their chromatin state profiles and genome-wide DNAm data, available in public datasets. The selected target genomic regions were experimentally validated by bisulfite sequencing on DNA extracted from 44 different autoptic tissues, including multiple brain regions. Sequencing data were analysed to identify brain-specific epihaplotypes. The developed assay was tested in plasma cfDNA from patients with immune effector cell-associated neurotoxicity syndrome (ICANS) following chimeric antigen receptor T (CAR-T) therapy. Results: We validated five genomic regions with brain-specific DNAm (four hypomethylated and one hypermethylated in the brain). DNAm analysis of the selected genomic regions in plasma samples from CAR-T patients revealed higher levels of bcfDNA in participants with ongoing neurotoxicity syndrome. Conclusions: We developed an assay for the analysis of bcfDNA in plasma. The assay is a promising tool for the early detection of neuronal loss in neurodegenerative diseases. Full article
(This article belongs to the Special Issue Novel Biomarkers for Alzheimer’s Disease and Other Neurodegenerative Diseases)
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15 pages, 1043 KiB  
Article
A Retrospective Cohort Study of a Newly Proposed Criteria for Sporadic Creutzfeldt–Jakob Disease
by Toshiaki Nonaka, Ryusuke Ae, Koki Kosami, Hiroya Tange, Miho Kaneko, Takehiro Nakagaki, Tsuyoshi Hamaguchi, Nobuo Sanjo, Yoshikazu Nakamura, Tetsuyuki Kitamoto, Yoshiyuki Kuroiwa, Kensaku Kasuga, Manabu Doyu, Fumiaki Tanaka, Koji Abe, Shigeo Murayama, Ichiro Yabe, Hideki Mochizuki, Takuya Matsushita, Hiroyuki Murai, Masashi Aoki, Koji Fujita, Masafumi Harada, Masaki Takao, Tadashi Tsukamoto, Yasushi Iwasaki, Masahito Yamada, Hidehiro Mizusawa, Katsuya Satoh and Noriyuki Nishidaadd Show full author list remove Hide full author list
Diagnostics 2024, 14(21), 2424; https://doi.org/10.3390/diagnostics14212424 - 30 Oct 2024
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Abstract
Background/Objectives: Sporadic Creutzfeldt–Jakob disease (sCJD) is a fatal neurodegenerative disorder traditionally diagnosed based on the World Health Organization (WHO) criteria in 1998. Recently, Hermann et al. proposed updated diagnostic criteria incorporating advanced biomarkers to enhance early detection of sCJD. This study aimed to [...] Read more.
Background/Objectives: Sporadic Creutzfeldt–Jakob disease (sCJD) is a fatal neurodegenerative disorder traditionally diagnosed based on the World Health Organization (WHO) criteria in 1998. Recently, Hermann et al. proposed updated diagnostic criteria incorporating advanced biomarkers to enhance early detection of sCJD. This study aimed to evaluate the sensitivity and specificity of Hermann’s criteria compared with those of the WHO criteria in a large cohort of patients suspected of prion disease in Japan. Methods: In this retrospective cohort study, we examined the new criteria using data of 2004 patients with suspected prion disease registered with the Japanese Prion Disease Surveillance (JPDS) between January 2009 and May 2023. Patients with genetic or acquired prion diseases or incomplete data necessary for the diagnostic criteria were excluded, resulting in 786 eligible cases. The sensitivity and specificity of the WHO and Hermann’s criteria were calculated by comparing diagnoses with those made by the JPDS Committee. Results: Of the 786 included cases, Hermann’s criteria helped identify 572 probable cases compared with 448 by the WHO criteria. The sensitivity and specificity of the WHO criteria were 96.4% and 96.6%, respectively. Hermann’s criteria demonstrated a sensitivity of 99.3% and a specificity of 95.2%, indicating higher sensitivity but slightly lower specificity. Fifty-five cases were classified as “definite” by both criteria. Conclusions: The findings suggest that Hermann’s criteria could offer improved sensitivity for detecting sCJD, potentially reducing diagnostic oversight. However, caution is advised in clinical practice to avoid misdiagnosis, particularly in treatable neurological diseases, by ensuring thorough exclusion of other potential conditions. Full article
(This article belongs to the Special Issue Novel Biomarkers for Alzheimer’s Disease and Other Neurodegenerative Diseases)
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12 pages, 865 KiB  
Article
Using eZIS to Predict Progression from MCI to Dementia in Three Years
by Ya-Tang Pai, Hiroshi Matsuda and Ming-Chyi Pai
Diagnostics 2024, 14(16), 1780; https://doi.org/10.3390/diagnostics14161780 - 15 Aug 2024
Viewed by 657
Abstract
(1) Background: Mild cognitive impairment (MCI) due to Alzheimer’s disease (AD) progresses to dementia at a higher annual rate, while other MCIs may remain stable or even improve over time. Discriminating progressive from non-progressive cases of MCI is crucial and challenging. (2) Methods: [...] Read more.
(1) Background: Mild cognitive impairment (MCI) due to Alzheimer’s disease (AD) progresses to dementia at a higher annual rate, while other MCIs may remain stable or even improve over time. Discriminating progressive from non-progressive cases of MCI is crucial and challenging. (2) Methods: A retrospective study of individuals with MCI was conducted at a university hospital located in southern Taiwan. The researchers collected demographic data, comorbidities, the scores of cognitive tests, three easy Z-score imaging system (eZIS) indicators (severity, extent, and ratio), Fazekas scale scores, mesial temporal atrophy (MTA) scores, clinical outcomes including deterioration of Cognitive Abilities Screening Instrument, Mini-mental State Examination, Clinical Dementia Rating Sum of Box scores, and the conversion from MCI to dementia. Those who converted to dementia in three years and non-converters were compared by the three eZIS indicators to test the predictive utility, and the clinical outcomes were evaluated by regression and ROC curve analysis. (3) Results: The three eZIS indicators were significantly higher in the group of progressive MCI than in stable MCI. eZIS severity is positively correlated with a deterioration in the scores of the Cognitive Abilities Screening Instrument and Clinical Dementia Rating Sum of Box. eZIS severity is also positively correlated with conversion from MCI to dementia. The AUC for severity is 0.719, and the optimal cutoff value of severity for predicting conversion is 1.22. (4) Conclusions: During three years of follow-up, MCI individuals with greater eZIS severity were significantly associated with worse cognitive assessment scores and a higher conversion rate to dementia. Full article
(This article belongs to the Special Issue Novel Biomarkers for Alzheimer’s Disease and Other Neurodegenerative Diseases)
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