Recent Advances in the Diagnosis and Treatment of Neurodegenerative Diseases

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Neurology".

Deadline for manuscript submissions: closed (31 March 2026) | Viewed by 4137

Special Issue Editors


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Guest Editor
1. Department of Neurology, County Clinic Hospital, 500326 Brasov, Romania
2. Faculty of Medicine, Transilvania University, 500019 Brasov, Romania
Interests: movement disorders; Parkinson’s disease; stroke; neurodegenerative diseases; non-motor symptoms

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Guest Editor Assistant
1. Department of Neurology, County Clinic Hospital, 500326 Brasov, Romania
2. Faculty of Medicine, Transilvania University, 500019 Brasov, Romania
Interests: movement disorders; Parkinson’s disease; sleep disorders; Alzheimer’s disease

Special Issue Information

Dear Colleagues,

There have been remarkable recent advancements in understanding and treating neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and Huntington’s disease (HD), disorders which pose a considerable burden to patients, caregivers, and healthcare systems. Novel neuroimaging techniques (such as PET scans and quantitative MRI modalities), as well as genetic testing and advancements in the use of biomarkers in cerebrospinal fluid and blood-based proteins (such as tau and amyloid-beta), significantly contribute to diagnostic precision and disease staging. Wearable devices have been demonstrated to help clinicians to better characterize motor and non-motor symptoms of PD, offering real-time monitoring and enabling personalized treatment.

Emerging treatments such as the use of monoclonal antibodies, gene therapy, and cell-based therapies are being investigated for their potential to modify disease progression, and continuous efforts are being made to integrate these innovations into clinical applications.

In this context, we invite you to submit your research to this Special Issue of Medicina. The aim of this edition is to provide new insights into the epidemiology, pathophysiology, risk factors, diagnosis, and management of neurodegenerative diseases, including but not limited to AD, PD with motor and non-motor symptoms, Parkinsonism, ALS, and HD.

Authors are welcome to submit original articles; reports on novel treatment strategies and advances in decision making; clinical outcome and comparative studies; narrative, scoping, and systematic reviews; and meta-analyses.

Prof. Dr. Cristian Falup-Pecurariu
Guest Editor

Dr. Stefania Diaconu
Guest Editor Assistant

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Keywords

  • Alzheimer’s disease
  • Parkinson’s disease
  • motor symptoms
  • non-motor symptoms
  • Parkinsonism
  • amyotrophic lateral sclerosis
  • Huntington’s disease
  • biomarkers
  • disease modification
  • neuroimaging

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Published Papers (3 papers)

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Research

20 pages, 28601 KB  
Article
Neuromodulatory Effects of Substantia Nigra Pars Reticulata Deep Brain Stimulation (SNr-DBS) in the 6-Hydroxydopamine Rat Model of Parkinson’s Disease
by Eylem Turgut, Hande Parlak, Pinar Eser, Yasin Temel, Ali Jahanshahi, Levent Sarıkcıoglu, Gamze Erguler Tanrıover, Tanju Ucar, Ersoy Kocabicak and Aysel Agar
Medicina 2026, 62(4), 714; https://doi.org/10.3390/medicina62040714 - 9 Apr 2026
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Abstract
Background and Objectives: Parkinson’s disease (PD) is a neurodegenerative disorder marked by bradykinesia, rigidity, and tremor. While deep brain stimulation (DBS) of the subthalamic nucleus (STN) and globus pallidus internus (GPi) effectively alleviates motor symptoms, the potential of targeting the substantia nigra pars [...] Read more.
Background and Objectives: Parkinson’s disease (PD) is a neurodegenerative disorder marked by bradykinesia, rigidity, and tremor. While deep brain stimulation (DBS) of the subthalamic nucleus (STN) and globus pallidus internus (GPi) effectively alleviates motor symptoms, the potential of targeting the substantia nigra pars reticulata (SNr) is less understood. This study investigates the effects of mid-term DBS of the SNr on motor function and neuroplasticity in a 6-hydroxydopamine (6-OHDA) rat model of PD. Methods: Adult male Sprague-Dawley rats (280–300 g) were divided into healthy control (n = 10), PD (n = 9), sham-DBS (n = 7), and SNr-DBS (n = 7) groups. Bilateral striatal 6-OHDA lesions induced PD. High-frequency (130 Hz, 60 µs) SNr-DBS was delivered for 14 days. Locomotor activity (open-field), gait (footprint method), and motor coordination (rotarod) were assessed. Tyrosine hydroxylase (TH) expression in the SN and c-Fos and BDNF expression in the cerebellum, prefrontal cortex (PFC), and ventrolateral thalamus were analyzed histologically. Results: SNr-DBS significantly improved ambulation and horizontal activity compared to the PD group (p < 0.05). Gait analysis showed significant improvements in forelimb/hindlimb stride length and stance width, while rotarod performance indicated enhanced motor coordination (p < 0.05). Histology revealed increased TH expression in the SN and elevated c-Fos and BDNF levels in the cerebellum, PFC, and thalamus in the SNr-DBS group vs. PD rats (p < 0.05). Conclusions: Mid-term SNr-DBS produced significant functional gains in motor activity and coordination in a 6-OHDA PD model, together with molecular evidence of dopaminergic enhancement and neuroplastic activation. These translational findings suggest that targeting the SNr may offer a clinically relevant alternative for patients with PD, particularly for those who may not optimally respond to conventional STN or GPi stimulation. Full article
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21 pages, 3349 KB  
Article
Quantifying White Matter Hyperintensities: Automated Volumetry Compared with Visual Grading Scales
by Arturs Titovs, Artūrs Šilovs, Kalvis Kaļva, Ardis Platkājis, Andrejs Kostiks, Kristīne Šneidere, Guntis Karelis, Ainārs Stepens and Nauris Zdanovskis
Medicina 2026, 62(1), 60; https://doi.org/10.3390/medicina62010060 - 28 Dec 2025
Cited by 1 | Viewed by 1396
Abstract
Background and objectives. White matter hyperintensities (WMHs) on brain magnetic resonance imaging (MRI) are linked to cognitive decline, but clinical assessment still relies mainly on visual grading (Fazekas), which is coarse and rater-dependent. We described the lesion volume of WMHs and the association [...] Read more.
Background and objectives. White matter hyperintensities (WMHs) on brain magnetic resonance imaging (MRI) are linked to cognitive decline, but clinical assessment still relies mainly on visual grading (Fazekas), which is coarse and rater-dependent. We described the lesion volume of WMHs and the association of the anatomical distribution with the severity of cognitive impairment using automated lesion analysis. In addition, we evaluated whether automated volumetric quantification is more strongly associated with cognitive performance than visual grading. Materials and Methods. In a retrospective cross-sectional study, forty-one adults referred for cognitive concerns underwent standardised 3.0 tesla MRI. White matter hyperintensities were automatically segmented using Icometrix software to obtain total and regional volumes (periventricular, subcortical, brainstem, cerebellum). Visual grading used the Fazekas scale separately for periventricular and deep white matter, with a combined grade defined by the higher of the two. Cognitive performance was grouped based on the Montreal Cognitive Assessment (MoCA) into high (≥26), moderate (18–25), and low (≤17). Statistics included Spearman’s correlation and the Kruskal–Wallis test with Dunn’s post hoc test where applicable. Results. Higher total white matter hyperintensity volume was associated with lower Montreal Cognitive Assessment scores and showed significant differences across cognitive groups. The Fazekas combined grade correlated more weakly with the MoCA score. Regional volumetric differences showed trends, but were not statistically significant. Total volumetric burden increased stepwise across combined Fazekas categories, supporting convergent validity between methods. Conclusions. Our study found that automated volumetric quantification provides a more objective, sensitive, and scalable measure of white matter hyperintensity burden than visual grading, aligns more closely with cognitive status, and is better suited for longitudinal monitoring and research endpoints. Full article
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19 pages, 710 KB  
Article
Beyond Motor Decline in ALS: Patient-Centered Insights into Non-Motor Manifestations
by Anca Moțățăianu, Sebastian Andone, Smaranda Maier, Rareș Chinezu, Medeea Roman, Mihai Dumitreasă, Rodica Bălașa and Ioana Ormenișan
Medicina 2025, 61(9), 1694; https://doi.org/10.3390/medicina61091694 - 18 Sep 2025
Cited by 1 | Viewed by 1558
Abstract
Background and Objectives: Traditionally regarded as a purely motor disorder, amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of upper and lower motor neurons. However, it is increasingly recognized as a condition with a broader clinical spectrum, [...] Read more.
Background and Objectives: Traditionally regarded as a purely motor disorder, amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of upper and lower motor neurons. However, it is increasingly recognized as a condition with a broader clinical spectrum, encompassing a variety of non-motor symptoms (NMS) that significantly impact patients’ quality of life and may influence disease progression and prognosis. Materials and Methods: The study included 44 patients diagnosed with probable or definite ALS and 35 healthy controls (HC). Functional neurological status, non-motor manifestations, and cognitive and affective domains were evaluated using the revised ALS Functional Rating Scale (ALSFRS-R), the Non-Motor Symptoms Questionnaire (NMSQuest), the Frontal Assessment Battery (FAB), and the Beck Depression Inventory (BDI), respectively. Results: A majority of ALS patients exhibited non-motor symptoms (NMS). Significant associations were identified between specific NMS domains and ALSFRS-R subdomains: sleep disturbances were associated with lower fine motor, respiratory, and total scores; digestive symptoms with lower bulbar, respiratory, and total scores; cardiovascular symptoms with lower total scores; urinary symptoms with higher bulbar subscores and a significantly slower progression rate (ΔPR); and sensory symptoms with higher gross motor subscores. BDI scores were negatively correlated with respiratory and bulbar functions, whereas FAB scores showed positive correlations with both bulbar and total ALSFRS-R scores. Conclusions: Non-motor symptoms are highly prevalent in this ALS cohort. These symptoms do not consistently correlate with greater motor impairment, as urinary and somatosensory involvement may occur independently of functional decline. Cognitive, affective, and behavioral alterations co-exist with motor symptoms and are associated with poorer overall functional performance. Full article
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