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Precision and Personalized Medicine Applied to Alzheimer’s Disease and Other...
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Special Issue "Precision and Personalized Medicine Applied to Alzheimer’s Disease and Other Cognitive and Behavioral Pathologies"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 15 February 2024 | Viewed by 853

Special Issue Editors

Dr. Miren Altuna Azkargorta

E-Mail Website
Guest Editor
CITA-Alzheimer Foundation, 20009 Donostia-San Sebastián, Spain
Interests: Alzheimer's disease; mild cognitive impairment; cognition disorders; biomarkers neurological diseases; neurodegenerative diseases
Dr. María Victoria Zelaya
E-Mail
Guest Editor
Department of Pathology, Hospital Universitario de Navarra, 31008 Pamplona, Spain
Interests: neurodegenerative disease; muscle disease; Alzheimer’s disease; proteomic approaches; brain tumors; neuropathology

Special Issue Information

Dear Colleagues,

Alzheimer's disease (AD), mainly, but also the rest of the causes of cognitive impairment represents a socio-health challenge of growing relevance in our society. The identification of core biomarkers of AD has been a revolution in the capacity of early diagnosis, but their application is not universal. In addition to the need to optimize more accessible diagnostic tools for use in clinical practice for both AD and other causes of cognitive impairment, it is essential to identify prognostic biomarkers that allow individualized pharmacological and non-pharmacological treatment. It is also crucial to identify the unmet needs of patients and caregivers in order to design strategic plans for comprehensive and personalized care.

In this Special Issue we want to include papers (systematic or narrative reviews and original research articles) that from different perspectives (basic, clinical and translational research) focus on:

  1. In elucidating the pathogenic mechanisms involved in AD and other causes of cognitive impairment;
  2. In the identification of new diagnostic and prognostic biomarkers of AD and other causes of cognitive impairment;
  3. In the identification of the main socio-sanitary challenges faced by patients and their caregivers;
  4. Proposing new therapeutic targets and/or treatment schemes that allow either modifying the clinical course of the disease and/or improving the quality of life of patients and caregivers.

Dr. Miren Altuna Azkargorta
Dr. María Victoria Zelaya
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. Journal of Personalized Medicine is an international peer-reviewed open access monthly 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
  • cognitive impairment
  • pathogenesis
  • biomarkers
  • neuroimaging
  • CSF biomarkers
  • plasma biomakers
  • early diagnosis
  • prognosis
  • therapeutic target
  • pharmacological treatment
  • non-pharmacological treatment
  • quality of life
  • socioemotional well-being
  • caregivers

Published Papers (2 papers)

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Research

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Article
C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia
by
Izaro Kortazar-Zubizarreta
,
Africa Manero-Azua
,
Juan Afonso-Agüera
and
Guiomar Perez de Nanclares
J. Pers. Med. 2023, 13(9), 1396; https://doi.org/10.3390/jpm13091396 - 19 Sep 2023
Viewed by 270
Abstract
The expanded GGGGCC hexanucleotide repeat (HRE) in the non-coding region of the C9ORF72 gene (C9ORF72-HRE) is the most common genetic cause of familial forms of amyotrophic lateral sclerosis (ALS), FTD, and concurrent ALS and FTD (ALS-FTD), in addition to contributing to the sporadic [...] Read more.
The expanded GGGGCC hexanucleotide repeat (HRE) in the non-coding region of the C9ORF72 gene (C9ORF72-HRE) is the most common genetic cause of familial forms of amyotrophic lateral sclerosis (ALS), FTD, and concurrent ALS and FTD (ALS-FTD), in addition to contributing to the sporadic forms of these diseases. Both syndromes overlap not only genetically, but also sharing similar clinical and neuropathological findings, being considered as a spectrum. In this paper we describe the clinical-genetic findings in a Basque family with different manifestations within the spectrum, our difficulties in reaching the diagnosis, and a narrative review, carried out as a consequence, of the main features associated with C9ORF72-HRE. Family members underwent a detailed clinical assessment, neurological examination, and genetic analysis by repeat-primed PCR. We studied 10 relatives of a symptomatic carrier of the C9ORF72-HRE expansion. Two of them presented the expansion in the pathological range, one of them was symptomatic whereas the other one remained asymptomatic at 72 years. Given the great intrafamilial clinical variability of C9ORF72-HRE, the characterization of patients and family members with particular clinical and genetic subgroups within ALS and FTD becomes a bottleneck for medication development, in particular for genetically focused medicines for ALS and FTD. Full article
(This article belongs to the Special Issue Precision and Personalized Medicine Applied to Alzheimer’s Disease and Other Cognitive and Behavioral Pathologies)
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Review

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Review
New Community and Sociohealth Challenges Arising from the Early Diagnosis of Mild Cognitive Impairment (MCI)
by
Carolina López
and
Miren Altuna
J. Pers. Med. 2023, 13(9), 1410; https://doi.org/10.3390/jpm13091410 - 20 Sep 2023
Viewed by 178
Abstract
Population aging increases the risk of developing neurodegenerative diseases that cause cognitive impairment. Advances in clinical practice and greater social awareness of the importance of cognitive impairment have led to an increase in the number of people with early diagnosis, predementia. Increasing access [...] Read more.
Population aging increases the risk of developing neurodegenerative diseases that cause cognitive impairment. Advances in clinical practice and greater social awareness of the importance of cognitive impairment have led to an increase in the number of people with early diagnosis, predementia. Increasing access to biomarkers to assess whether Alzheimer’s disease (AD) is the underlying cause of mild cognitive impairment (MCI) has undoubted clinical benefits (access to potentially disease-modifying treatments, among others) but is also responsible for new social–health care challenges. Understanding the psychosocial impact of a diagnosis of MCI due to AD or another neurodegenerative disease is essential to create future strategies to reduce the emotional overload of patients, their risk of discrimination and stigmatization, and to favor their social inclusion. We present a narrative review of the diagnostic process of mild cognitive impairment in clinical practice, with a holistic person-centered approach, and discuss the implications of such diagnosis (benefits and risks) and strategies on how to address them. Full article
(This article belongs to the Special Issue Precision and Personalized Medicine Applied to Alzheimer’s Disease and Other Cognitive and Behavioral Pathologies)
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