Clinical Scorecard: Therapeutic Approaches Targeting Alternative Splicing in Neurodegenerative Disorders: A Bibliometric and NLP Analysis from 2000 to 2025

At a Glance

Key Highlights

• Sustained linear growth in publication output from 2000 to 2025
• Dominance of the United States and Western Europe in collaborative research
• Identification of three core conceptual axes: molecular mechanisms, disease-specific models, and translational methodologies
• Concentration of splicing-modifying interventions in pediatric spinal muscular atrophy (SMA)
• Shift from descriptive molecular biology to clinically actionable splicing interventions

Guideline-Based Recommendations

Diagnosis

• Focus on molecular dysregulation and aberrant splicing in NDDs

Management

• Utilization of splicing-targeted therapeutics such as antisense oligonucleotides (ASOs) and small molecules

Monitoring & Follow-up

• Assessment of clinical trial outcomes and efficacy of splicing-modifying therapies

Risks

• Complexity of pathogenesis in NDDs may hinder the development of disease-modifying therapies

Patient & Prescribing Data

Patients with neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis

Emerging therapies targeting aberrant splicing show promise in preclinical and clinical settings

Clinical Best Practices

• Expand targeted RNA platforms beyond pediatric disorders to adult neurodegenerative populations
• Integrate bibliometric and NLP approaches for comprehensive research analysis
• Focus on translational research to bridge the gap between basic science and clinical application

Related Resources & Content

• Neurodegenerative Diseases Overview
• Alternative Splicing in Disease