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Biomedicines
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Advances in Neurological Diseases: Pathogenesis, Diagnosis and Therapeutic Strategies
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Advances in Neurological Diseases: Pathogenesis, Diagnosis and Therapeutic Strategies

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

Deadline for manuscript submissions: 31 May 2025 | Viewed by 4038

Special Issue Editors

Dr. Foteini Christidi

E-Mail Website
Guest Editor
Department of Neurology, School of Medicine, University Hospital of Alexandroupolis, Democritus University of Thrace, 68100 Alexandroupolis, Greece
Interests: neuroimaging; neuropsychology; cognitive disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Dimitrios Tsiptsios

E-Mail Website
Guest Editor
3rd Department of Neurology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
Interests: epilepsy; clinical neurophysiology; stroke; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurological diseases encompass a broad and diverse array of conditions that affect the brain, spinal cord, and peripheral nerves. These disorders can present with a wide spectrum of symptoms, ranging from subtle cognitive changes to severe motor impairments, posing significant challenges to individuals and healthcare systems worldwide.

Comprehending the pathogenesis of neurological diseases is essential for developing effective treatments and preventive strategies. Advances in neuroimaging and biomarker discovery have significantly improved the early and accurate diagnosis of these diseases. Moreover, insights into the mechanisms underlying neurological diseases are pivotal for devising therapeutic strategies. The therapeutic strategies discussed in this Special Issue span a broad range of interventions, ranging from pharmacological treatments that target specific pathological pathways to innovative gene- and cell-based therapies, as well as non-pharmacological treatments.

We invite researchers to submit research articles or review papers relevant to this Special Issue. Areas of research may include but are not limited to the following: (1) molecular and cellular mechanisms; (2) diagnostic tools, biomarkers, and imaging techniques; (3) clinical and interventional studies, including pharmacological and regenerative medicine approaches, as well as neurorehabilitation methods, targeting both motor and extra-motor deficits.

We look forward to receiving your contributions.

Dr. Foteini Christidi
Dr. Dimitrios Tsiptsios
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

  • neurological diseases
  • neurodegenerative diseases
  • stroke
  • multiple sclerosis
  • epilepsy
  • neuromuscular disorders
  • demyelinating diseases
  • traumatic brain injury
  • clinical neurophysiology
  • neuroimaging
  • genetics
  • neuropsychological tests
  • molecular and cellular mechanisms
  • biomarkers
  • diagnosis and therapeutics
  • prognosis
  • neurorehabilitation

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Published Papers (4 papers)

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Research

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13 pages, 1183 KiB  
Article
Can Progressive Supranuclear Palsy Be Accurately Identified via MRI with the Use of Visual Rating Scales and Signs?
by George Anyfantakis, Stamo Manouvelou, Vasilios Koutoulidis, Georgios Velonakis, Nikolaos Scarmeas and Sokratis G. Papageorgiou
Biomedicines 2025, 13(5), 1009; https://doi.org/10.3390/biomedicines13051009 - 22 Apr 2025
Viewed by 201
Abstract
Introduction: Neurodegenerative diseases like progressive supranuclear palsy (PSP) present challenges concerning their diagnosis. Neuroimaging using magnetic resonance (MRI) may add diagnostic value. However, modern techniques such as volumetric assessment using Voxel-Based Morphometry (VBM), although proven to be more accurate and superior compared to [...] Read more.
Introduction: Neurodegenerative diseases like progressive supranuclear palsy (PSP) present challenges concerning their diagnosis. Neuroimaging using magnetic resonance (MRI) may add diagnostic value. However, modern techniques such as volumetric assessment using Voxel-Based Morphometry (VBM), although proven to be more accurate and superior compared to MRI, have not gained popularity among scientists in the investigation of neurological disorders due to their higher cost and time-consuming applications. Conventional brain MRI methods may present a quick, practical, and easy-to-use imaging rating tool for the differential diagnosis of PSP. The purpose of this study is to evaluate a string of existing visual MRI rating scales and signs regarding their impact for the diagnosis of PSP. Materials and Methods: The population study consisted of 30 patients suffering from PSP and 72 healthy controls. Each study participant underwent a brain MRI, which was subsequently examined by two independent researchers in a double-blinded fashion. Fifteen visual rating scales and signs were evaluated, including pontine atrophy, cerebellar atrophy, midbrain atrophy, aqueduct of Sylvius enlargement, cerebellar peduncle hyperintensities, enlargement of the fourth ventricle (100% sensitivity and 71% specificity) and left temporal lobe atrophy (97% sensitivity and 78% specificity). Conclusions: Enlargement of the Sylvius aqueduct, enlargement of the fourth ventricle and atrophy of both temporal lobes together with the presence of morning glory and hummingbird signs can be easily and quickly distinguished and identified by an experienced radiologist without involving any complex analysis, making them useful tools for PSP diagnosis. MRI visual scale measurements could be added to the diagnostic criteria of PSP and may serve as an alternative to highly technical and more sophisticated quantification methods. Full article
(This article belongs to the Special Issue Advances in Neurological Diseases: Pathogenesis, Diagnosis and Therapeutic Strategies)
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15 pages, 2427 KiB  
Article
Role of Epidural Electrode Stimulation in Three Patients with Incomplete AIS D Spinal Cord Injury
by Yu-Chen Chen, Xiang-Ling Huang, Hung-Yu Cheng, Ciou-Chan Wu, Ming-Yung Wu, Lian-Cing Yan, Shin-Yuan Chen, Sheng-Tzung Tsai and Shinn-Zong Lin
Biomedicines 2025, 13(1), 155; https://doi.org/10.3390/biomedicines13010155 - 10 Jan 2025
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Abstract
Background/Objectives: To determine whether epidural electrical stimulation (EES) improves sensory recovery and walking function in patients with chronic spinal cord injury (SCI) with a grade on the American Spinal Cord Injury Association impairment scale (AIS) of C or D at the cervical [...] Read more.
Background/Objectives: To determine whether epidural electrical stimulation (EES) improves sensory recovery and walking function in patients with chronic spinal cord injury (SCI) with a grade on the American Spinal Cord Injury Association impairment scale (AIS) of C or D at the cervical level. Methods: Three individuals with cervical-level chronic AIS D SCI were enrolled in the study. The mean injury duration and age were 4.8 ± 4.5 (range: 1.5–10) and 56.7 ± 9 years, respectively. The participants received personalized electrical stimulation for 36 weeks and were evaluated for their SCI characteristics, the result of an AIS assessment according to the lower extremity sensorimotor scale, their muscle activity, and preoperative walking ability parameters, initially as well as at weeks 8 and 36 of the EES intervention. Results: Participants receiving EES significantly increased the muscle activity in most lower limb muscles. Regarding the AIS assessment of the lower extremities, one participant fully regained a light touch sensation, while two fully recovered their pinprick sensation (AIS sensory scores increased from 14 to 28). One participant achieved a full motor score, whereas the others’ scores increased by 19 and 7 points. Compared with preoperative gait parameters, two participants showed improvements in their walking speed and cadence. Walking symmetry, an important parameter for assessing walking function, improved by 68.7%, 88%, and 77% in the three participants, significantly improving the symmetry index (p = 0.003). Conclusions: Thus, EES may be an effective strategy for sensory impairment recovery, as well as muscular activity and strength improvement. These findings may facilitate stable walking in subjects with chronic incomplete SCI, but larger clinical trials are warranted. Clinical trial: NCT05433064. Full article
(This article belongs to the Special Issue Advances in Neurological Diseases: Pathogenesis, Diagnosis and Therapeutic Strategies)
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Review

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38 pages, 2169 KiB  
Review
Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging
by Jana Kleinerova, Rangariroyashe H. Chipika, Ee Ling Tan, Yana Yunusova, Véronique Marchand-Pauvert, Jan Kassubek, Pierre-Francois Pradat and Peter Bede
Biomedicines 2025, 13(3), 559; https://doi.org/10.3390/biomedicines13030559 - 22 Feb 2025
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Abstract
Background: The clinical profiles of MNDs are dominated by inexorable motor decline, but subclinical proprioceptive, nociceptive and somatosensory deficits may also exacerbate mobility, dexterity, and bulbar function. While extra-motor pathology and frontotemporal involvement are widely recognised in motor neuron diseases (MNDs), reports [...] Read more.
Background: The clinical profiles of MNDs are dominated by inexorable motor decline, but subclinical proprioceptive, nociceptive and somatosensory deficits may also exacerbate mobility, dexterity, and bulbar function. While extra-motor pathology and frontotemporal involvement are widely recognised in motor neuron diseases (MNDs), reports of sensory involvement are conflicting. The potential contribution of sensory deficits to clinical disability is not firmly established and the spectrum of sensory manifestations is poorly characterised. Methods: A systematic review was conducted to examine the clinical, neuroimaging, electrophysiology and neuropathology evidence for sensory dysfunction in MND phenotypes. Results: In ALS, paraesthesia, pain, proprioceptive deficits and taste alterations are sporadically reported and there is also compelling electrophysiological, histological and imaging evidence of sensory network alterations. Gait impairment, impaired dexterity, and poor balance in ALS are likely to be multifactorial, with extrapyramidal, cerebellar, proprioceptive and vestibular deficits at play. Human imaging studies and animal models also confirm dorsal column-medial lemniscus pathway involvement as part of the disease process. Sensory symptoms are relatively common in spinal and bulbar muscular atrophy (SBMA) and Hereditary Spastic Paraplegia (HSP), but are inconsistently reported in primary lateral sclerosis (PLS) and in post-poliomyelitis syndrome (PPS). Conclusions: Establishing the prevalence and nature of sensory dysfunction across the spectrum of MNDs has a dual clinical and academic relevance. From a clinical perspective, subtle sensory deficits are likely to impact the disability profile and care needs of patients with MND. From an academic standpoint, sensory networks may be ideally suited to evaluate propagation patterns and the involvement of subcortical grey matter structures. Our review suggests that sensory dysfunction is an important albeit under-recognised facet of MND. Full article
(This article belongs to the Special Issue Advances in Neurological Diseases: Pathogenesis, Diagnosis and Therapeutic Strategies)
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Other

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48 pages, 1487 KiB  
Systematic Review
The Impact of Visualization on Stroke Rehabilitation in Adults: A Systematic Review of Randomized Controlled Trials on Guided and Motor Imagery
by Andrea Calderone, Alfredo Manuli, Francesca Antonia Arcadi, Annalisa Militi, Simona Cammaroto, Maria Grazia Maggio, Serena Pizzocaro, Angelo Quartarone, Alessandro Marco De Nunzio and Rocco Salvatore Calabrò
Biomedicines 2025, 13(3), 599; https://doi.org/10.3390/biomedicines13030599 - 1 Mar 2025
Viewed by 1205
Abstract
Background/Objectives: Guided imagery techniques, which include mentally picturing motions or activities to help motor recovery, are an important part of neuroplasticity-based motor therapy in stroke patients. Motor imagery (MI) is a kind of guided imagery in neurorehabilitation that focuses on mentally rehearsing certain [...] Read more.
Background/Objectives: Guided imagery techniques, which include mentally picturing motions or activities to help motor recovery, are an important part of neuroplasticity-based motor therapy in stroke patients. Motor imagery (MI) is a kind of guided imagery in neurorehabilitation that focuses on mentally rehearsing certain motor actions in order to improve performance. This systematic review aims to evaluate the current evidence on guided imagery techniques and identify their therapeutic potential in stroke motor rehabilitation. Methods: Randomized controlled trials (RCTs) published in the English language were identified from an online search of PubMed, Web of Science, Embase, EBSCOhost, and Scopus databases without a specific search time frame. The inclusion criteria take into account guided imagery interventions and evaluate their impact on motor recovery through validated clinical, neurophysiological, or functional assessments. This review has been registered on Open OSF with the following number: DOI 10.17605/OSF.IO/3D7MF. Results: This review synthesized 41 RCTs on MI in stroke rehabilitation, with 996 participants in the intervention group and 757 in the control group (average age 50–70, 35% female). MI showed advantages for gait, balance, and upper limb function; however, the RoB 2 evaluation revealed ‘some concerns’ related to allocation concealment, blinding, and selective reporting issues. Integrating MI with gait training or action observation (AO) seems to improve motor recovery, especially in balance and walking. Technological methods like brain–computer interfaces (BCIs) and hybrid models that combine MI with circuit training hold potential for enhancing functional mobility and motor results. Conclusions: Guided imagery shows promise as a beneficial adjunct in stroke rehabilitation, with the potential to improve motor recovery across several domains such as gait, upper limb function, and balance. Full article
(This article belongs to the Special Issue Advances in Neurological Diseases: Pathogenesis, Diagnosis and Therapeutic Strategies)
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