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Special Issue "State of the Art: Neurodegenerative Diseases in Italy 2.0"

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Neurologic Disease".

Deadline for manuscript submissions: closed (15 June 2023) | Viewed by 9436

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Special Issue Editors

Dr. Amedeo Amedei

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Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy
Interests: microbiota-immunity axis; autoimmunity; cancers; inflammation; T cells; micro and nanoplastic effects on human
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Prof. Dr. Jessica Mandrioli

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Department of Biomedical, Metabolic and Neural Sciences, Centre for Neuroscience and Nanotechnology, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Interests: amyotrophic lateral sclerosis; neurological diseases; neuroepidemiology; neurodegeneration; neuroinflammation; neurogenetics; microbiota
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Dr. Elena Niccolai

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Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
Interests: immune-mediated diseases; microbiome; tumour immunity and cancer; gut-brain axis disorders
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Special Issue Information

Dear Colleagues,

Neurodegenerative diseases represent an increasing burden and challenge for society, carrying an urgent unmet need for effective treatments. Despite the substantial breakthroughs achieved by neurogenetics and neurobiology, and advances in complex molecular networks associated with neurodegeneration and neuroinflammation, the field still lacks in-depth knowledge on neurodegenerative pathological mechanisms of diseases and their clinical and biological heterogeneity. Understanding the basic biological processes of diseases and their clinical features through large patient cohorts is critical for finding mechanism-based therapeutics and evaluating individual response to treatments. Together, these will pave the way towards personalized medicine.

This call for papers aims to collect high-quality papers on emerging research areas in neurodegenerative diseases in Italy, with special focus on motor neuron diseases and dementia and emphasis on the role of neurodegeneration and neuroinflammation as well as biological and clinical heterogeneity. Utilizing multidisciplinary approaches is essential to the success of this field; hence, contributions including interdisciplinary studies (e.g., epidemiology, genetics, molecular biology, cellular biology, immunology, pharmacology) are strongly encouraged.

Dr. Amedeo Amedei
Prof. Dr. Jessica Mandrioli
Dr. Elena Niccolai
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. Biomedicines 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

neurodegenerative diseases
motor neuron diseases
dementia
neurodegeneration
epidemiology
pathomechanisms
neuroinflammation
neuroimmunology
gut-brain axis
disease heterogeneity
prognosis
biomarkers

Published Papers (6 papers)

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Research

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Open AccessArticle

The Cerebellum Gets Social: Evidence from an Exploratory Study of Cerebellar, Neurodevelopmental, and Psychiatric Disorders

and

Biomedicines 2023, 11(2), 309; https://doi.org/10.3390/biomedicines11020309 - 22 Jan 2023

Cited by 1 | Viewed by 1357

Abstract

Social prediction is a key feature of social cognition (SC), a function in which the modulating role of the cerebellum is recognized. Accordingly, cerebellar alterations are reported in cerebellar pathologies, neurodevelopmental disorders, and psychiatric conditions that show SC deficits. Nevertheless, to date, no study has directly compared populations representative of these three conditions with respect to SC and cerebellar alterations. Therefore, the present exploratory study aimed to compare the SC profiles of individuals with cerebellar neurodegenerative disorders (CB), autism (ASD), bipolar disorder type 2 (BD2), or healthy subjects (HS) using a battery of social tests requiring different degrees of prediction processing. The patterns of cerebellar gray matter (GM) alterations were compared among the groups using voxel-based morphometry. Compared to HS, the clinical groups showed common SC deficits in tasks involving a moderate to high level of prediction. The behavioral results of the clinical groups are consistent with the presence of overlapping GM reduction in cerebellar right Crus II, an area notably involved in complex social processing and prediction. Although exploratory and preliminary, these results deepen the cerebellar role in social prediction and highlight the transdiagnostic value of the cerebellum in social functioning and prediction in pathologies of different aetiologies, forecasting novel possibilities for shared interventions. Full article

(This article belongs to the Special Issue State of the Art: Neurodegenerative Diseases in Italy 2.0)

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Open AccessArticle

The Cerebellum Is a Key Structure in the Neural Network for Mentalizing: An MRI Study in the Behavioral Variant of Frontotemporal Dementia

and

Maria Caterina Silveri

Biomedicines 2022, 10(11), 2901; https://doi.org/10.3390/biomedicines10112901 - 11 Nov 2022

Cited by 1 | Viewed by 1061

Abstract

The behavioural variant of frontotemporal dementia (bvFTD) is primarily characterized by deficits in social behaviour and theory of mind (ToM). Although a consensus has been reached on the roles of the cerebellum in social cognition and ToM, its specific contribution to social impairments of bvFTD has never been specifically investigated. The aim of this study was to assess cerebellar structural and functional changes in patients with bvFTD and their potential association with ToM deficits of patients. Therefore, 15 patients with bvFTD and 34 healthy subjects underwent an MRI examination. Voxel-based morphometry was used to assess cerebellar (GM) changes, and a seed-based analysis was performed to test cerebello-cerebral functional connectivity (FC). The performance of bvFTD patients in a ToM task was then correlated with FC patterns. Compared to healthy subjects, patients with bvFTD showed significant cerebellar GM loss specifically involving cerebellar Crus I-II. Additionally, FC changes FC were observed between the cerebellum and cerebral regions related to ToM. Interestingly, patterns of changes in cerebello-cerebral FC correlated with altered ToM performances explored using the “Reading the Mind with the Eyes” test (RMET) of patients. The present findings suggest that specific changes in cerebello-cerebral FC may underlie ToM alterations in patients with bvFTD. Full article

(This article belongs to the Special Issue State of the Art: Neurodegenerative Diseases in Italy 2.0)

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Open AccessReview

Alzheimer’s Disease from the Amyloidogenic Theory to the Puzzling Crossroads between Vascular, Metabolic and Energetic Maladaptive Plasticity

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Biomedicines 2023, 11(3), 861; https://doi.org/10.3390/biomedicines11030861 - 11 Mar 2023

Viewed by 1136

Abstract

Alzheimer’s disease (AD) is a progressive and degenerative disease producing the most common type of dementia worldwide. The main pathogenetic hypothesis in recent decades has been the well-known amyloidogenic hypothesis based on the involvement of two proteins in AD pathogenesis: amyloid β (Aβ) and tau. Amyloid deposition reported in all AD patients is nowadays considered an independent risk factor for cognitive decline. Vascular damage and blood–brain barrier (BBB) failure in AD is considered a pivotal mechanism for brain injury, with increased deposition of both immunoglobulins and fibrin. Furthermore, BBB dysfunction could be an early sign of cognitive decline and the early stages of clinical AD. Vascular damage generates hypoperfusion and relative hypoxia in areas with high energy demand. Long-term hypoxia and the accumulation within the brain parenchyma of neurotoxic molecules could be seeds of a self-sustaining pathological progression. Cellular dysfunction comprises all the elements of the neurovascular unit (NVU) and neuronal loss, which could be the result of energy failure and mitochondrial impairment. Brain glucose metabolism is compromised, showing a specific region distribution. This energy deficit worsens throughout aging. Mild cognitive impairment has been reported to be associated with a glucose deficit in the entorhinal cortex and in the parietal lobes. The current aim is to understand the complex interactions between amyloid β (Aβ) and tau and elements of the BBB and NVU in the brain. This new approach aimed at the study of metabolic mechanisms and energy insufficiency due to mitochondrial impairment would allow us to define therapies aimed at predicting and slowing down the progression of AD. Full article

(This article belongs to the Special Issue State of the Art: Neurodegenerative Diseases in Italy 2.0)

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Open AccessReview

Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario

, The Italian-DIAfN Working Group,

Giovanni B. Frisoni

and

Emilio Di Maria

Biomedicines 2022, 10(12), 3177; https://doi.org/10.3390/biomedicines10123177 - 08 Dec 2022

Cited by 1 | Viewed by 1210

Abstract

Alzheimer’s disease (AD) is a genetically complex disorder. In addition to the relatively small number of pathogenic variants causing autosomal dominant AD, many others have been associated with the much more common sporadic form. The E4 allele of the Apolipoprotein E (APOE) is the first discovered genetic risk factor for AD. In addition, more than 70 genetic risk loci contributing to AD have been identified. Current guidelines do not recommend AD susceptibility genetic testing in cognitively healthy adults because the implications for clinical care are limited. However, secondary prevention clinical trials of disease-modifying therapies enrol individuals based on genetic criteria, and participants are often informed of APOE testing results. Moreover, the availability of direct-to-consumer genetic testing allows individuals to learn their own AD genetic risk profile without medical supervision. A number of research protocols for AD susceptibility genetic testing have been proposed. In Italy, disclosure processes and protocols beyond those developed for inherited dementia have not been established yet. We reviewed the literature on the current practice and clinical issues related to disclosing AD genetic risk to cognitively healthy individuals and provide suggestions that may help to develop specific guidelines at the national level. Full article

(This article belongs to the Special Issue State of the Art: Neurodegenerative Diseases in Italy 2.0)

Open AccessReview

Three-Dimensional Constructive Interference in Steady State (3D CISS) Imaging and Clinical Applications in Brain Pathology

Sarah Caroline Scarcella

and

Biomedicines 2022, 10(11), 2997; https://doi.org/10.3390/biomedicines10112997 - 21 Nov 2022

Cited by 1 | Viewed by 2158

Abstract

Three-dimensional constructive interference in steady state (3D CISS) is a steady-state gradient-echo sequence in magnetic resonance imaging (MRI) that has been used in an increasing number of applications in the study of brain disease in recent years. Owing to the very high spatial resolution, the strong hyperintensity of the cerebrospinal fluid signal and the high contrast-to-noise ratio, 3D CISS can be employed in a wide range of scenarios, ranging from the traditional study of cranial nerves, the ventricular system, the subarachnoid cisterns and related pathology to more recently discussed applications, such as the fundamental role it can assume in the setting of acute ischemic stroke, vascular malformations, infections and several brain tumors. In this review, after briefly summarizing its fundamental physical principles, we examine in detail the various applications of 3D CISS in brain imaging, providing numerous representative cases, so as to help radiologists improve its use in imaging protocols in daily clinical practice. Full article

(This article belongs to the Special Issue State of the Art: Neurodegenerative Diseases in Italy 2.0)

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Open AccessReview

The Arrival of the Metaverse in Neurorehabilitation: Fact, Fake or Vision?

Rocco Salvatore Calabrò

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Biomedicines 2022, 10(10), 2602; https://doi.org/10.3390/biomedicines10102602 - 17 Oct 2022

Cited by 8 | Viewed by 2052

Abstract

The metaverse is a new technology thought to provide a deeper, persistent, immersive 3D experience combining multiple different virtual approaches in a full continuum of physical–digital interaction spaces. Different from virtual reality (VR) and augmented reality (AR), the metaverse has a service-oriented solid model with an emphasis on social and content dimensions. It has widely been demonstrated that motor or cognitive deficits can be more effectively treated using VR/AR tools, but there are several issues that limit the real potential of immersive technologies applied to neurological patients. In this scoping review, we propose future research directions for applying technologies extracted from the metaverse in clinical neurorehabilitation. The multisensorial properties of the metaverse will boost the embodied cognition experience, thus influencing the internal body representations as well as learning strategies. Moreover, the immersive social environment shared with other patients will contribute to recovering social and psychoemotional abilities. In addition to the many potential pros, we will also discuss the cons, providing readers with the available information to better understand the complexity and limitations of the metaverse, which could be considered the future of neurorehabilitation. Full article

(This article belongs to the Special Issue State of the Art: Neurodegenerative Diseases in Italy 2.0)

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