International Journal of General Medicine

Recent Developments in Motor Neuron Disease: Pathophysiology, Diagnosis and Therapy

Motor neuron disease (MND) is a heterogenous group of neurodegenerative, predominantly fatal or severely disabling disorders, affecting primarily upper and lower motor neurons. For decades MND was only partially understood with treatment options limited mainly to symptomatic therapies. Recent advances in mechanisms including specific genetic mutations gave exciting insights into pathophysiology of various forms of MND and encouraged scientific community to undertake investigations aiming at further elucidating the backgrounds of neurodegenerative processes which lead to its development. Furthermore, the recent introduction of the first disease-modifying therapies in spinal muscular atrophy and genetic forms of amyotrophic lateral sclerosis raised hope for patients and clinicians and boosted the interest in the progress in this area. The aim of this Article Collection is to present and highlight the newest findings in pathophysiology, diagnosis and therapy of MND as well to provide a comprehensive overview of the current knowledge.

The incidence of adult-onset MND is estimated at 2.4 cases per 100,000 person-years, and its prevalence at 9.5 cases per 100,000 population. Most cases are ALS, with typical survival ranging from 3 to 5 years after symptom onset. Some childhood forms of spinal muscular atrophy are associated with an even shorter life expectancy. Almost all patients with MND experience substantial motor disability, with a profound impact on their professional and social lives. Available treatments remain largely symptomatic. However, recent advances in understanding of the mechanisms underlying various forms of MND, particularly their genetic basis, have paved the way for effective disease-modifying therapies and these developments have stimulated further research worldwide.

This Article Collection welcomes original research, comprehensive and systematic reviews and meta-analyses. Other article types accepted by the journal may also be considered. We welcomes articles on the following themes across the field of motor neuron disease:

• Pathophysiologic mechanisms leading to development of particular types of MND
• Identification of relevant genetic mutations with their epidemiology and impact on the phenotype
• New diagnostic strategies for identification of early-symptomatic and presymptomatic subjects as well as differential diagnosis between particular forms of motor neuron diseases and their mimics
• Recent advances in disease-modifying and symptomatic therapy

Keywords

• Motor Neuron Disease
• Amyotrophic Lateral Sclerosis
• Spinal Muscular Atrophy
• Diagnosis
• Treatment

Guest Advisor

Jakub Antczak, MD, PhD is a Polish neurologist affiliated with the Department of Neurology at Jagiellonian University Medical College in Kraków. He graduated from the Medical University of Warsaw and earned his doctorate at the University of Regensburg in Germany. His clinical expertise includes neurophysiology, peripheral nerve disorders, transcranial magnetic stimulation, and sleep medicine.

Submission Instructions:

All manuscripts submitted to this Article Collection will undergo full peer-review; the Guest Advisor will not be handling submitted articles unless they are an editorial board member. The Guest Advisor declares the following conflicts of interests: Contract as PI in the following clinical trials on ALS patients: ASTRALS study (NCT06643481), Nura Bio NB-4746-201 study (NCT07369076), PREVAiLS study (NCT07322003), UNITE-ALS study (NCT07023835). Received full waiver of the attendance fee and reimbursement of the hotel at TRICALS Master Class, Amsterdam, the Nederlands, 11-13 Feb 2026. Member of Advisory Board meeting in Warsaw on May 11 th 2023 organized by Amylyx Pharmaceuticals

Please review the journal’s aims and scope and author instructions prior to submission.

The manuscript submission deadline is 31st August 2027.

Please submit your manuscript via our submission site and be sure to select the Article Collection title from the drop-down menu during submission.

If you have any questions about this Article Collection or APC discounts, please contact Commissioning Editor Francis Straw at francis.straw@tandf.co.uk