Biomarker Research in Neuromuscular Diseases

A special issue of Neurology International (ISSN 2035-8377). This special issue belongs to the section "Movement Disorders and Neurodegenerative Diseases".

Deadline for manuscript submissions: closed (30 November 2025) | Viewed by 1447

Special Issue Editor

Department of Neurology, University of Pecs Clinical Centre, Pecs, Hungary
Interests: myopathy; muscular dystrophy; biomarkers; small fiber neuropathy

Special Issue Information

Dear Colleagues,

Neuromuscular diseases include a wide range of diseases of the peripheral nervous system, including the diseases of muscles, nerves and lower motor neurons.

In recent years, significant progress has been made in this field, both in diagnostic and therapeutic possibilities. There is a need for easy-to-use clinical and biochemical biomarkers to monitor disease severity, as well as to follow disease progression and for prognostic purposes.

In this Special Issue, we aim to cover a broad spectrum of diseases including, but not limited to, the following:

  • Spinal muscular atrophy;
  • Polyneuropathies with a diverse etiology;
  • Small-fiber neuropathy;
  • Autoimmune myositis;
  • Muscular dystrophies;
  • Myopathies either of hereditary or acquired origin.

In muscular dystrophies, recent publications focused on the degradation sarcomeric proteins (troponin, titin) and their correlations with clinical scores. However, we do not have widely accepted fluid biomarkers for muscle atrophy and sarcopenia. In contrast, the determination of levels of neurofilaments in serum or CSF seems more frequently used in peripheral nerve damage.

In summary, we expect publications either of new research studies or overviews of clinical and biochemical investigations related to already used or new biomarkers in neuromuscular disorders.

Dr. Endre Pál
Guest Editor

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Keywords

  • biomarkers
  • microRNA
  • myopathy
  • muscular dystrophy
  • neurofilament
  • polyneuropathy
  • small-fiber neuropathy

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Published Papers (2 papers)

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10 pages, 3602 KB  
Case Report
Oculomotor Abnormalities in Anti-Glutamic Acid Decarboxylase-Positive Stiff Person Syndrome
by Pavol Skacik, Jaroslav Petrisin, Kristian Sveda, Monika Turcanova-Koprusakova, Milan Grofik, Stefan Sivak and Egon Kurca
Neurol. Int. 2025, 17(11), 179; https://doi.org/10.3390/neurolint17110179 - 3 Nov 2025
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Abstract
Background: Antibodies to glutamic acid decarboxylase (anti-GAD) can give rise to stiff person syndrome (SPS), an infrequent autoimmune condition of the central nervous system marked by fluctuating muscular rigidity and stimulus-evoked spasms. Disturbances in eye-movement control are rarely identified yet may provide insight [...] Read more.
Background: Antibodies to glutamic acid decarboxylase (anti-GAD) can give rise to stiff person syndrome (SPS), an infrequent autoimmune condition of the central nervous system marked by fluctuating muscular rigidity and stimulus-evoked spasms. Disturbances in eye-movement control are rarely identified yet may provide insight into underlying neural involvement. Methods: Two individuals with anti-GAD-related SPS showing distinctive ocular-motor abnormalities were examined with quantitative videonystagmography, supplemented by representative video documentation. Results: Recordings demonstrated varied patterns of ocular-motor disturbance, including reduced smooth-pursuit accuracy, delayed saccadic initiation, dysmetria, intrusive saccades, and several nystagmus types. Partial improvement occurred after immunomodulatory therapy. Conclusions: These findings extend current understanding of the anti-GAD SPS phenotype and indicate that quantitative analysis of eye movements may offer a sensitive, non-invasive marker of disease activity. Larger, prospective studies are needed to clarify prevalence and responsiveness to treatment. Full article
(This article belongs to the Special Issue Biomarker Research in Neuromuscular Diseases)
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9 pages, 550 KB  
Brief Report
Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study
by Andrea Sipos, Emese Rebeka Ripszám, Judit Mária Molnár, Zoltán Grosz, Judit Boczán, Melinda Borbála Altorjay, Livia Dézsi, Anett Csáti, Kristóf Babarczy, Norbert Kovács, Nándor Hajdú and Endre Pál
Neurol. Int. 2025, 17(8), 114; https://doi.org/10.3390/neurolint17080114 - 22 Jul 2025
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Abstract
Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease. The urinary titin N fragment (UNT) has recently been proven [...] Read more.
Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease. The urinary titin N fragment (UNT) has recently been proven to be related to muscle damage. Methods: The UNT was measured in 41 patients with SMA and 41 healthy controls. Clinical data, functional tests, and laboratory findings were also recorded. Results: We found significantly higher UNT levels in the patient samples than in the healthy subjects. The UNT was not related to disease type, functional test results, or serum creatine kinase levels. Conclusions: This cross-sectional study highlights the importance of the UNT as a potential noninvasive biomarker for spinal muscular atrophy. Its role can potentially be verified through longitudinal studies. Full article
(This article belongs to the Special Issue Biomarker Research in Neuromuscular Diseases)
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