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Diagnostics
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Alzheimer’s Disease Pathophysiology
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Alzheimer’s Disease Pathophysiology

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

Deadline for manuscript submissions: closed (30 April 2020) | Viewed by 14120

Special Issue Editor

Dr. Jonathan Wisco

E-Mail Website
Guest Editor
Department of Anatomy and Neurobiology, Boston University School of Medicine, 72 E Concord St, L-1004 Boston, MA 02118, USA
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Alzheimer’s disease (AD)—a progressive, neurodegenerative, and incurable disorder—is the most common form of dementia diagnosed in people over the age of 65. AD looms as a major threat to public health in the first half of the 21st Century. Dementia doubles in frequency every five years after age 60, afflicting 1% of those aged 60–64 but rising to 30-40% of those 85 years and older. According to recent national census statistics, by the year 2050, the population of those aged 65 and older in the United States is projected to be 83.7 million, almost double its current estimated number of 43.1 million (in 2012).

Despite our knowledge of AD pathophysiology, an effective pharmacological treatment to treat the degenerative disorder and ameliorate dementia symptoms does not exist. Perhaps we need to look beyond the formation of amyloid beta plaques and tau tangles at a bigger picture? The primary goal of this Special Issue on “Alzheimer’s Disease Pathophysiology” are to present new hypotheses to the scientific community for testing and to stimulate multi-disciplinary collaboration to at least slow down the pathophysiology of the disease. The Special Issue will include invited and solicited submissions. We welcome your contribution.

Dr. Jonathan Wisco
Guest Editor

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

  • Pathophysiology
  • Biomarkers
  • Amyloid beta plaques
  • Tau tangles
  • Metabolic syndrome
  • Diabetes
  • Diagnostics

Published Papers (4 papers)

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Research

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10 pages, 1600 KiB  
Article
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease
by Eva Bagyinszky, Hyon Lee, Jung Min Pyun, Jeewon Suh, Min Ju Kang, Van Giau Vo, Seong Soo A. An, Kee Hyung Park and SangYun Kim
Diagnostics 2020, 10(6), 405; https://doi.org/10.3390/diagnostics10060405 - 14 Jun 2020
Cited by 2 | Viewed by 2775
Abstract
We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed [...] Read more.
We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed diffuse atrophy in the fronto-parietal regions. In addition, 18F-fludeoxyglucose positron emission tomography (FDG-PET) showed reduced tracer uptake in the parietal and temporal cortices, bilaterally. The second patient developed memory dysfunction at the age of 49, and his mother was also affected. Amyloid positron emission tomography (PET) was positive, but MRI scans did not reveal any atrophy. Targeted NGS and Sanger sequencing identified a heterozygous C to T exchange in PSEN1 exon 5 (c.356C>T), resulting in a p.Thr119Ile mutation. The mutation is located in the conserved HL-I loop, where several Alzheimer’s disease (AD) related mutations have been described. Structure analyses suggested that Thr119Ile mutation may result in a significant change inside conservative loop. Additional in vitro studies are needed to estimate the role of the PSEN1 Thr119Ile in AD disease progression. Full article
(This article belongs to the Special Issue Alzheimer’s Disease Pathophysiology)
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9 pages, 1180 KiB  
Article
Association of Plasma Oligomerized Beta Amyloid with Neurocognitive Battery Using Korean Version of Consortium to Establish a Registry for Alzheimer’s Disease in Health Screening Population
by Jung-Ju Lee, Youngki Choi, Soie Chung, Dae Hyun Yoon, Seung Ho Choi, Sung-Min Kang, David Seo and Kyung-Il Park
Diagnostics 2020, 10(4), 237; https://doi.org/10.3390/diagnostics10040237 - 20 Apr 2020
Cited by 9 | Viewed by 3893
Abstract
The increasing prevalence of Alzheimer’s disease (AD) has become a global phenomenon presenting serious social and health challenges. For detecting early molecular changes in the disease, several techniques to measure varied species of amyloid beta in the peripheral blood have been recently developed, [...] Read more.
The increasing prevalence of Alzheimer’s disease (AD) has become a global phenomenon presenting serious social and health challenges. For detecting early molecular changes in the disease, several techniques to measure varied species of amyloid beta in the peripheral blood have been recently developed, but the efforts to associate them with cognitive assessments have yet to produce sufficient data. We prospectively collected participants from the consecutive population who visited our center for brain health screening. In total, 97 participants (F:M = 58:39) aged 69.4 ± 7.52 were assessed. Participants performed the Korean version of the Consortium to Establish a Registry for Alzheimer’s disease (CERAD-K), the clinical dementia rating (CDR), plasma oligomeric amyloid-β (OAβ) level tests, routine blood tests, ApoE genotype, and brain MRI. Among total population, 55.7% had a CDR of 0, and 40.2% had a CDR of 0.5. The results showed that word memory and word recall, and the total scores of the CERAD-K were negatively correlated with the plasma OAβ level. With a cut-off value of 0.78 ng/mL for the OAβ level and a −1.5 standard deviation of age/sex/education adjusted norms for the CERAD-K; naming, word memory, word recall, word recognition, and total score were significantly correlated with the OAβ level. No correlation between the OAβ level and mini-mental status examination was found. Our results demonstrate that the level of plasma OAβ was well correlated with the measure of cognitive function through the CERAD-K in the field data collected from consecutive populations. Studies on longitudinal comparisons with large cohorts will further validate the diagnostic value of plasma OAβ as a useful biomarker for screening AD and predicting progression. Full article
(This article belongs to the Special Issue Alzheimer’s Disease Pathophysiology)
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11 pages, 3540 KiB  
Article
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease
by Vorapun Senanarong, Seong Soo A. An, Vo Van Giau, Chanin Limwongse, Eva Bagyinszky and SangYun Kim
Diagnostics 2020, 10(3), 135; https://doi.org/10.3390/diagnostics10030135 - 01 Mar 2020
Cited by 5 | Viewed by 2773
Abstract
A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several [...] Read more.
A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family members were also diagnosed with dementia (father and grandfather). MRI in the patient revealed global cortical atrophy without specific lesions or lacuna infarctions. Extensive genetic profiling for 50 neurodegenerative disease related genes was performed by next generation sequencing (NGS) on the patient. PSEN1 Glu184Gly was previously reported in French families with frontal variant Alzheimer’s disease (AD). Interestingly, this mutation is located near the splicing site and could possibly result in abnormal cleavage of PSEN1 transcript. Furthermore, 3D models from protein structural predictions revealed significant structural changes, since glycine may result in increased flexibility of TM-III helix. Inter/intra-helical interactions could also be altered. In the future, functional studies should be performed to verify the probable role PSEN1 Glu184Gly in amyloid beta processing and pathogenicity. Full article
(This article belongs to the Special Issue Alzheimer’s Disease Pathophysiology)
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Review

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17 pages, 1084 KiB  
Review
Role of Body-Fluid Biomarkers in Alzheimer’s Disease Diagnosis
by Thuy Trang Nguyen, Qui Thanh Hoai Ta, Thi Kim Oanh Nguyen, Thi Thuy Dung Nguyen and Van Giau Vo
Diagnostics 2020, 10(5), 326; https://doi.org/10.3390/diagnostics10050326 - 20 May 2020
Cited by 14 | Viewed by 4225
Abstract
Alzheimer’s disease (AD) is a complex neurodegenerative disease that requires extremely specific biomarkers for its diagnosis. For current diagnostics capable of identifying AD, the development and validation of early stage biomarkers is a top research priority. Body-fluid biomarkers might closely reflect synaptic dysfunction [...] Read more.
Alzheimer’s disease (AD) is a complex neurodegenerative disease that requires extremely specific biomarkers for its diagnosis. For current diagnostics capable of identifying AD, the development and validation of early stage biomarkers is a top research priority. Body-fluid biomarkers might closely reflect synaptic dysfunction in the brain and, thereby, could contribute to improving diagnostic accuracy and monitoring disease progression, and serve as markers for assessing the response to disease-modifying therapies at early onset. Here, we highlight current advances in the research on the capabilities of body-fluid biomarkers and their role in AD pathology. Then, we describe and discuss current applications of the potential biomarkers in clinical diagnostics in AD. Full article
(This article belongs to the Special Issue Alzheimer’s Disease Pathophysiology)
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