Precision Medicine in Neurodegenerative Disorders: Diagnosis, Treatment, and Management

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

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 6126

Special Issue Editor


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Guest Editor
School of Medicine, University of Thessaly, Larissa, Greece
Interests: neuodegenerative disorders; neurogenetics; movement disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Neurodegenerative disorders are characterized by progressive neuronal loss in the central nervous system, causing a decline in nervous system function.

Precision medicine (PM) is a course of treatment tailored specifically to an individual patient or subpopulation based on a particular genotype or specific biomarkers that could be indicative of the course of the disorder.

Precision medicine uses novel biomarkers, targetable disease mechanisms, pharmacogenomics, and pharmacogenetics for early diagnosis, appropriate treatment selection, tracking response to therapy, progression, and prognosis.

Its role in the diagnosis, management, monitoring, and prognosis of diseases has become more important in recent years due to the augmentation of the -omics fields, such as proteomics, metabolomics, genomics, and transcriptomics, which have allowed for PM to establish reliability as a developing domain. The use of novel biomarkers in neurodegenerative diseases has allowed for individualized therapies and prognoses to be more prevalent, increasing the accuracy of diagnoses and the efficacy of interventions based on PM.

Prof. Dr. Georgia Xiromerisiou
Guest Editor

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Keywords

  • Precision medicine
  • Genotype
  • Proteomics, metabolomics, genomics, transcriptomics
  • Neurodegenerative disorders

Published Papers (2 papers)

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Research

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12 pages, 909 KiB  
Article
Validation of Chinese Version of SKT (Syndrom Kurztest): A Short Cognitive Performance Test for the Assessment of Memory and Attention
by Yao Lu, Jingchao Hu, Mark Stemmler and Qihao Guo
Diagnostics 2021, 11(12), 2253; https://doi.org/10.3390/diagnostics11122253 - 1 Dec 2021
Cited by 3 | Viewed by 1647
Abstract
(1) Background: The SKT (Syndrom Kurztest) is a short cognitive performance test that consists of nine subtests and assesses deficits of memory and attention. This study was aimed at exploring the SKT target population in China and evaluating the reliability and validity of [...] Read more.
(1) Background: The SKT (Syndrom Kurztest) is a short cognitive performance test that consists of nine subtests and assesses deficits of memory and attention. This study was aimed at exploring the SKT target population in China and evaluating the reliability and validity of the Chinese version of the SKT; (2) Methods: A total of 1624 patients aged over 60 years old were recruited in the Sixth People’s Hospital in Shanghai. The SKT raw scores were recorded. Cronbach’s alpha coefficient was determined to assess the internal consistency reliability of the SKT. Principal factor analysis was performed to evaluate the factor structure of the SKT subtests. Correlation analyses were carried out to confirm the relationship between the modified SKT and standardized neuropsychological tests. The influence of age and educational years on SKT raw scores were detected using multiple regression analyses. Validations of the SKT subtests for detecting Mild Cognitive Impairment (MCI) from Negative Control(NC)(were determined by Receiver operating characteristic (ROC) curves; (3) Results: The internal consistency among the subtests’ scores was high: Cronbach’s α = 0.827. The SKT memory test provided a high predictive validity in detecting aMCI with a sensitivity of 90.1% and specificity of 79.3%. (4) Conclusions: Based on our experience with 1624 elderly patients in Shanghai, the Chinese version of SKT has good stability and may be a reliable and valid screening tool for detecting MCI. Full article
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Review

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31 pages, 1112 KiB  
Review
Fluid Biomarkers in Alzheimer’s Disease and Other Neurodegenerative Disorders: Toward Integrative Diagnostic Frameworks and Tailored Treatments
by Linda Giampietri, Elisabetta Belli, Maria Francesca Beatino, Sara Giannoni, Giovanni Palermo, Nicole Campese, Gloria Tognoni, Gabriele Siciliano, Roberto Ceravolo, Ciro De Luca and Filippo Baldacci
Diagnostics 2022, 12(4), 796; https://doi.org/10.3390/diagnostics12040796 - 24 Mar 2022
Cited by 6 | Viewed by 3447
Abstract
The diagnosis of neurodegenerative diseases (NDDs) represents an increasing social burden, with the unsolved issue of disease-modifying therapies (DMTs). The failure of clinical trials treating Alzheimer′s Disease (AD) so far highlighted the need for a different approach in drug design and patient selection. [...] Read more.
The diagnosis of neurodegenerative diseases (NDDs) represents an increasing social burden, with the unsolved issue of disease-modifying therapies (DMTs). The failure of clinical trials treating Alzheimer′s Disease (AD) so far highlighted the need for a different approach in drug design and patient selection. Identifying subjects in the prodromal or early symptomatic phase is critical to slow down neurodegeneration, but the implementation of screening programs with this aim will have an ethical and social aftermath. Novel minimally invasive candidate biomarkers (derived from blood, saliva, olfactory brush) or classical cerebrospinal fluid (CSF) biomarkers have been developed in research settings to stratify patients with NDDs. Misfolded protein accumulation, neuroinflammation, and synaptic loss are the pathophysiological hallmarks detected by these biomarkers to refine diagnosis, prognosis, and target engagement of drugs in clinical trials. We reviewed fluid biomarkers of NDDs, considering their potential role as screening, diagnostic, or prognostic tool, and their present-day use in clinical trials (phase II and III). A special focus will be dedicated to novel techniques for the detection of misfolded proteins. Eventually, an applicative diagnostic algorithm will be proposed to translate the research data in clinical practice and select prodromal or early patients to be enrolled in the appropriate DMTs trials for NDDs. Full article
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