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Advances in the Diagnosis of Nervous System Diseases—3rd Edition
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Advances in the Diagnosis of Nervous System Diseases—3rd Edition

A Special Issue of Diagnostics (ISSN 2075-4418) belonging to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 March 2027 | Viewed by 9128

Editor

Dr. Vasileios T. Papaliagkas

E-Mail Website
Guest Editor
Department of Biomedical Sciences, School of Health Sciences, International Hellenic University, Thessaloniki, Greece
Interests: Alzheimer’s disease; neurodegenerative diseases; clinical neurophysiology; event-related potentials
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The diagnosis of neurological diseases is one of the most difficult challenges for medical professionals, due to the complexity of the nervous system. Currently, more than 600 diseases have been identified, including neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease, cerebrovascular diseases, and others, such as multiple sclerosis, migraines, neuroinfections, and neuromuscular diseases [1]. According to a report from the World Health Organization, nervous system diseases affect up to one billion people worldwide [2]. Several methods, such as magnetic resonance imaging, CSF biomarkers, and genetic and neurophysiological tests, provide useful information for the diagnosis of neurological diseases.

In this Special Issue, entitled “Advances in the Diagnosis of Nervous System Diseases—3rd Edition”, we invite investigators to contribute original research or review articles that focus on the role of tests or biomarkers (molecular, neuroimaging, genetic, and neurophysiological) in the diagnosis of nervous system diseases.

References

  1. Mott, M.; Koroshetz, W. Bridging the Gap in Neurotherapeutic Discovery and Development: The Role of the National Institute of Neurological Disorders and Stroke in Translational Neuroscience. Neurotherapeutics 2015, 12, 651–654. https://doi.org/10.1007/s13311-015-0366-6.
  2. World Health Organisation. Neurological Disorders: Public Health Challenges; World Health Organization: Geneva, Switzerland, 2007.

Dr. Vasileios T. Papaliagkas
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly 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

  • neuroimaging
  • neurodegenerative diseases
  • Alzheimer's disease
  • cognitive impairment
  • brain tumors

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Published Papers (6 papers)

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12 pages, 2603 KB  
Article
Cerebello-Pontine Angle Tumors in Children: An Update on Challenging Neoplasms
by Luca Massimi, Giuliano Di Monaco, Jacopo Ciccani, Federico Bianchi, Paolo Frassanito and Gianpiero Tamburrini
Diagnostics 2026, 16(1), 131; https://doi.org/10.3390/diagnostics16010131 - 1 Jan 2026
Cited by 1 | Viewed by 2288
Abstract
Introduction: Cerebellopontine angle (CPA) tumors are rare in children. As a result, knowledge on them is still limited, often concerning old series. The goal of this study is to provide an update on these challenging neoplasms by presenting a large series compared with [...] Read more.
Introduction: Cerebellopontine angle (CPA) tumors are rare in children. As a result, knowledge on them is still limited, often concerning old series. The goal of this study is to provide an update on these challenging neoplasms by presenting a large series compared with those available in the literature and focusing on tumor characteristics, molecular pattern, extent of tumor removal, surgical complications, and outcome. Methods: All children with CPA tumors consecutively operated on between 2010 and 2020 (minimum follow-up: 5 years) and with complete follow-up data were considered. Retro-sigmoid approach was used for tumors arising from CPA (group A) while a midline sub-occipital was used for those extending into CPA (Group B). Intraoperative neuronavigation, neuro-monitoring, and ultrasounds were routinely utilized. Results: 48 children (54 tumors) were included (mean age at surgery: 6.9 years, 38% infants, M/F ratio 1.1). Hydrocephalus was present at diagnosis in 27% of cases. Gross total resection of the tumor was obtained in 59% of cases, and subtotal and partial resection in 24% and 17%, respectively. Complications occurred in 25% of cases. Group A was composed of 23 children: the most common tumor was schwannoma (43%) followed by ependymomas, medulloblastoma, AT/RT (13% each), and less common histotypes. Group B was composed of 25 children: ependymomas (60%), AT/RT (20%), medulloblastoma (12%), others (8%). All but one ependymomas belonged to PF-A molecular group, while medulloblastomas were equally divided between WNT and Sonic-Hedgehog. The overall survival rate after a mean 7.2-year follow-up is 71%. A total of 14 patients died because of tumor or disease progression. No statistical differences between the two groups were detected as far as demographic data, tumor growing pattern, extent of tumor removal, complication rate, and overall survival were concerned. Only the mean tumor diameter was significantly longer in group B (3.9 cm vs. 3.3 cm). Apart from some differences in the demography, the extent of tumor removal and complications, no relevant differences were noticed among the series analyzed. Conclusions: Pediatric CPA tumors are uncommon but not rare and present significant management challenges. Surgery is demanding. The long-term survival is poorly improved compared with the past and compared with other posterior fossa tumors, the prognosis is mainly related to the biological tumor characteristics and the adjuvant treatments rather than the surgical excision. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—3rd Edition)
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21 pages, 2034 KB  
Article
Multidimensional Characterization of Parkinson’s Disease Subtypes Through Motor Neuron Excitability and Peripheral Immune Dynamics: Insights from F-Wave Modulation Metrics
by Esra Demir Unal and Yiğit Emre Dagdelen
Diagnostics 2026, 16(1), 27; https://doi.org/10.3390/diagnostics16010027 - 22 Dec 2025
Viewed by 954
Abstract
Background/Objective: Central pathophysiological heterogeneity among Parkinson’s disease (PD) motor subtypes has been increasingly recognized, yet subtype-specific peripheral disturbances are limited. We aimed to characterize demographic, biochemical, and neurophysiological differences among PD motor subtypes, evaluate hematoinflammatory effects on peripheral and proximal motor conduction, and [...] Read more.
Background/Objective: Central pathophysiological heterogeneity among Parkinson’s disease (PD) motor subtypes has been increasingly recognized, yet subtype-specific peripheral disturbances are limited. We aimed to characterize demographic, biochemical, and neurophysiological differences among PD motor subtypes, evaluate hematoinflammatory effects on peripheral and proximal motor conduction, and identify prognostic phenotypic biomarkers. Methods: A total of 110 participants (60 idiopathic PD patients (30 akinetic-rigid (AR), 30 tremor-predominant (TD), and 50 age- and sex-matched healthy controls (HCs)) were enrolled. Demographic data, nerve conduction studies (NCS) including detailed F-wave analysis, and hematoinflammatory markers were collected. Kruskal–Wallis, linear mixed models, multivariable regression, and ROC analyses were applied. Results: Hematoinflammatory indices were elevated in both subtypes compared with HCs, with more pronounced changes in AR (mean platelet volume (MPV) H = 4.367, p = 0.003; systemic inflammatory response index (SIRI) H = 3.929, p = 0.004). AR showed severe upper-limb–predominant motor involvement (median motor onset latency H = 55.30, p < 0.001; amplitude H = 50.52, p = 0.04; conduction velocity H = 49.15, p < 0.001), whereas TD showed milder, lower-limb–predominant changes (tibial motor onset latency H = 19.89, p < 0.001; amplitude H = 51.50, p = 0.02; velocity H = 15.39, p < 0.001). AR also demonstrated prolonged minimal (Fmin)/mean (Fmean) ulnar F-wave latencies versus TD (respectively, H = 10.51, p = 0.001; H = 8.79, p = 0.003), with both showing increased tibial Fmean/Fmax latencies. Platelet–eosinophil indices independently predicted ulnar F-latencies (B = 0.104–0.105; p = 0.001; model R2 = 0.21–0.39). Select F-wave metrics yielded ROC AUCs ≈ 0.65–0.92 (ulnar Fmin AUC ≈ 0.92 vs. HCs); AR achieved sensitivity/specificity ≈ 70–74%. Conclusions: The AR subtype showed increased hematoinflammatory changes, specifically in MPV and SIRI, as well as a tendency toward more pronounced proximal motor and peripheral nerve conduction impairment compared with TD. Platelet–eosinophil indices and F-wave metrics may represent potential candidate markers for diagnostic or stratification purposes in PD subtyping and could possibly aid in prognostic estimation. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—3rd Edition)
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16 pages, 1094 KB  
Article
Recognition of EEG Features in Autism Disorder Using SWT and Fisher Linear Discriminant Analysis
by Fahmi Fahmi, Melinda Melinda, Prima Dewi Purnamasari, Elizar Elizar and Aufa Rafiki
Diagnostics 2025, 15(18), 2291; https://doi.org/10.3390/diagnostics15182291 - 10 Sep 2025
Cited by 6 | Viewed by 2579
Abstract
Background/Objectives: An ASD diagnosis from EEG is challenging due to non-stationary, low-SNR signals and small cohorts. We propose a compact, interpretable pipeline that pairs a shift-invariant Stationary Wavelet Transform (SWT) with Fisher’s Linear Discriminant (FLDA) as a supervised projection method, delivering band-level [...] Read more.
Background/Objectives: An ASD diagnosis from EEG is challenging due to non-stationary, low-SNR signals and small cohorts. We propose a compact, interpretable pipeline that pairs a shift-invariant Stationary Wavelet Transform (SWT) with Fisher’s Linear Discriminant (FLDA) as a supervised projection method, delivering band-level insight and subject-wise evaluation suitable for resource-constrained clinics. Methods: EEG from the KAU dataset (eight ASD, eight controls; 256 Hz) was decomposed with SWT (db4). We retained levels 3, 4, and 6 (γ/β/θ) as features. FLDA learned a low-dimensional discriminant subspace, followed by a linear decision rule. Evaluation was conducted using a subject-wise 70/30 split (no subject overlap) with accuracy, precision, recall, F1, and confusion matrices. Results: The β band (Level 4) achieved the best performance (accuracy/precision/recall/F1 = 0.95), followed by γ (0.92) and θ (0.85). Despite partial overlap in FLDA scores, the projection maximized between-class separation relative to within-class variance, yielding robust linear decisions. Conclusions: Unlike earlier FLDA-only pipelines and wavelet–entropy–ANN approaches, our study (1) employs SWT (undecimated, shift-invariant) rather than DWT to stabilize sub-band features on short resting segments, (2) uses FLDA as a supervised projection to mitigate small-sample covariance pathologies before classification, (3) provides band-specific discriminative insight (β > γ/θ) under a subject-wise protocol, and (4) targets low-compute deployment. These choices yield a reproducible baseline with competitive accuracy and clear clinical interpretability. Future work will benchmark kernel/regularized discriminants and lightweight deep models as cohort size and compute permit. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—3rd Edition)
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12 pages, 900 KB  
Article
Quantitative DSA Analysis of MCA Aneurysms Using SymDIRECT Pixel Clustering: A Novel Framework for Objective Post-Treatment Evaluation
by Ante Rotim, Marina Raguž, Nikica Fulir, Darko Orešković, Vladimir Kalousek, Petar Marčinković, Krešimir Rotim, Bruno Splavski, Silva Butković Soldo and Tomislav Sajko
Diagnostics 2025, 15(16), 2036; https://doi.org/10.3390/diagnostics15162036 - 14 Aug 2025
Viewed by 1443
Abstract
Background: Digital subtraction angiography (DSA) remains the gold standard for assessing aneurysm morphology before and after treatment. While visual interpretation is common, quantitative image analysis remains underutilized in clinical practice. This study aimed to evaluate postoperative vascular changes in patients with middle cerebral [...] Read more.
Background: Digital subtraction angiography (DSA) remains the gold standard for assessing aneurysm morphology before and after treatment. While visual interpretation is common, quantitative image analysis remains underutilized in clinical practice. This study aimed to evaluate postoperative vascular changes in patients with middle cerebral artery (MCA) aneurysms using SymDIRECT-based pixel clustering on preoperative and postoperative DSA images. Methods: A total of 59 patients with unruptured MCA aneurysms were analyzed retrospectively. SymDIRECT clustering segmented angiographic images into four intensity clusters. Quantitative comparison of cluster pixel counts between pre- and postoperative images was performed. Results: Both neurosurgical clipping and endovascular treatment groups demonstrated significant reductions in medium- and high-intensity pixel clusters postoperatively, reflecting successful aneurysm occlusion. The background cluster increased post-treatment in most cases, with an average rise of over 14%, indicating effective anatomical exclusion of the aneurysm. Conclusions: SymDIRECT-based pixel clustering enables objective, pixel-level quantification of treatment response in DSA images. This approach may support standardized imaging follow-up protocols and improve reproducibility in neurovascular outcome assessment. Future integration with AI-based segmentation could facilitate real-time image interpretation. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—3rd Edition)
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6 pages, 2932 KB  
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Inclusion-Body Myopathy with Paget Disease of the Bone and Frontotemporal Dementia (IBMPFD) with SCN4A Mutation: Modifying Factor or Not?
by Sekai Tsujimoto, Koji Hayashi, Mamiko Sato, Toshio Hamada, Asuka Suzuki, Yuka Nakaya, Toyoaki Miura, Ichizo Nishino, Wakako Yoshioka and Yasutaka Kobayashi
Diagnostics 2026, 16(17), 2833; https://doi.org/10.3390/diagnostics16172833 - 3 Sep 2026
Viewed by 320
Abstract
A 56-year-old man with a family history of myopathy developed generalized muscle weakness at age 45. At age 52, he was diagnosed with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), confirmed by muscle pathology and a pathogenic VCP mutation [...] Read more.
A 56-year-old man with a family history of myopathy developed generalized muscle weakness at age 45. At age 52, he was diagnosed with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), confirmed by muscle pathology and a pathogenic VCP mutation (c.464G>A, p.R155H). Concurrent testing identified a heterozygous SCN4A variant (c.215C>T, p.P72L), a known modifier in myotonic dystrophy type 2 (DM2). At age 56, neurological examination showed proximal muscle weakness (MMT grade 3), distal lower extremity weakness (grade 4–5), and areflexia. He ambulated independently with knee locking, though squatting was impossible. No myotonia or periodic paralysis was observed. Multimodal imaging captured classic IBMPFD hallmarks: skeletal muscle computed tomography (CT) showed advanced fatty degeneration of paraspinal and limb muscles; brain magnetic resonance imaging (MRI) revealed mild frontal lobe atrophy; and bone scintigraphy showed increased uptake in the lumbar spine and iliums. Although the SCN4A p.P72L variant exacerbates DM2, the patient’s three-year progression from independent walking to cane use remained consistent with the natural history of IBMPFD. This case suggests that in the presence of a robustly penetrant VCP phenotype, the SCN4A variant does not necessarily exert a clinical modifying effect. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—3rd Edition)
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7 pages, 3015 KB  
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Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies
by Koji Hayashi, Asuka Suzuki, Mamiko Sato, Yuka Nakaya, Taibo Uchida, Tomohisa Yamaguchi, Toyoaki Miura, Hiromi Hayashi, Kouji Hayashi and Yasutaka Kobayashi
Diagnostics 2026, 16(5), 676; https://doi.org/10.3390/diagnostics16050676 - 26 Feb 2026
Viewed by 857
Abstract
A 79-year-old former marathoner, with memory impairment since age 78, developed increasing stumbling and progressively worsening waddling gait. Three months after gait disturbance onset, she noted mild dysphagia. With declining walking distance and endurance, she presented to our hospital six months after onset, [...] Read more.
A 79-year-old former marathoner, with memory impairment since age 78, developed increasing stumbling and progressively worsening waddling gait. Three months after gait disturbance onset, she noted mild dysphagia. With declining walking distance and endurance, she presented to our hospital six months after onset, exhibiting frontal signs, Parkinsonism with marked trunk rigidity, and hyperreflexia of the jaw and limbs. L-dopa challenge tests showed no improvement. At seven months post-onset, she had difficulty rising. By nine months, she relied on a walker, and speech disturbance appeared. At 10–11 months, both dysarthria and dysphagia rapidly worsened, she became bed-ridden, and upper limb weakness developed (though she could still use chopsticks). Neurological examination at one year revealed severe dysarthria/dysphagia, four extremity fasciculations and muscle weakness (grade 2 in upper limbs, grade 1 in lower limbs), trunk-dominant rigidity, and hyperreflexia in the jaw and limbs. Brain MRI, specifically susceptibility-weighted imaging, revealed motor band signs. Cerebrospinal fluid study revealed albuminocytological dissociation. Needle electromyography revealed acute denervation and chronic reinnervation in the cranial nerve, cervical, and lumbar areas, which was suggestive of motor neuron disease (MND). Serum anti-GQ1b antibodies were detected. Immunotherapy was followed by mild improvement, which might suggest a reversible component, although definitive pathological overlap remains unconfirmed. This case highlights a diagnostic challenge where an acute immune-mediated neuropathy could potentially be superimposed on a chronic neurodegenerative process. Anti-GQ1b antibodies should be interpreted with caution, as they may reflect either a true clinicopathological overlap with Guillain-Barré syndrome or a secondary phenomenon (epiphenomenon) related to the primary neurodegenerative process. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Nervous System Diseases—3rd Edition)
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