Topic: Latest Advances in Rare Neurological Disorders

Rare neurological disorders (RNDs) cover a highly heterogeneous group of central, peripheral and autonomic nervous system diseases characterized by low prevalence, complex clinical phenotypes, prolonged diagnostic odysseys, limited targeted therapeutics and heavy physical, psychological and economic burdens on patients, caregivers and healthcare systems worldwide.

Notably, rare variants of common neurological diseases also fall within the scope of this special issue. These include familial Alzheimer’s disease, familial Parkinson’s disease, lethal monogenic stroke and other atypical monogenic subtypes of prevalent neurological conditions. Although their sporadic counterparts are widely studied, these rare familial forms exhibit distinct genetic drivers, earlier onset ages, unique pathological cascades and tailored clinical management demands that remain underrepresented in mainstream research.

Over the past decade, advances in neurogenetics, multi-omics profiling, precision neuroimaging, preclinical disease modeling and gene-targeted therapies have greatly advanced our understanding of RNDs and rare familial subtypes of common brain disorders. Nevertheless, major knowledge gaps persist in early biomarker identification, differential diagnostic workflows, disease-modifying treatment development and standardized long-term care pathways.

This special issue aims to gather high-quality interdisciplinary research on rare neurological diseases, including neuromuscular disorders, spanning basic neuroscience, translational medicine, clinical neurology, genetic counseling, rehabilitation and public health. We provide an open-access forum for global neurologists, geneticists, neuroscientists, radiologists, pharmacologists and health policy researchers to share groundbreaking original data, unresolved clinical challenges and innovative intervention strategies. All accepted manuscripts undergo rigorous double-anonymized peer review and are published online continuously upon acceptance, forming a dedicated, unified thematic collection freely accessible to clinicians, scientists and patient communities globally.