會議議程

Executive Summary：
Dr. Tsai-Wei Liu is an attending neurologist at Chang Gung Memorial Hospital, Linkou Medical Center, where she is engaged in both clinical neurology and translational research. She completed her residency and fellowship training in neurology at Chang Gung Memorial Hospital and is currently a Ph.D. candidate in Clinical Medical Sciences at Chang Gung University.
Dr. Liu’s clinical and academic interests include neuroimmunology, neuroinflammatory disorders, and neuromuscular diseases, with particular emphasis on neuromyelitis optica spectrum disorder and multiple sclerosis. In the field of inherited peripheral neuropathies, she is actively involved in the clinical evaluation and longitudinal care of patients with suspected hereditary neuropathies. Her work integrates detailed clinical phenotyping with electrophysiological assessment and genetic testing to enhance diagnostic accuracy and disease characterization.
Her research focuses on elucidating disease mechanisms and identifying biomarkers in both immune-mediated and inherited neurological disorders, with the goal of translating molecular insights into clinically meaningful applications.
Dr. Liu is an active member of several neurological societies and serves on the committee of the Society for Neurological Rare Disorders in Taiwan. She has received multiple awards for outstanding oral and poster presentations, reflecting her commitment to patient-centered care, academic excellence, and the advancement of precision medicine in neurology.

Lecture Abstract：
Hereditary neuropathies comprise a diverse group of genetically determined disorders affecting the peripheral nervous system, characterized by progressive sensory loss, motor weakness, and variable autonomic involvement. Among them, Charcot-Marie-Tooth disease represents the most prevalent phenotype, while other forms, including amyloid, metabolic, and mitochondrial neuropathies, contribute to substantial clinical heterogeneity. Historically, management strategies have been largely supportive, focusing on rehabilitation, orthotic intervention, and symptomatic treatment. However, recent advances in molecular genetics and translational neuroscience have fundamentally altered the therapeutic landscape.
This review provides an up-to-date overview of recent developments in the understanding and treatment of hereditary neuropathies, emphasizing how improved genotype–phenotype correlations and next-generation sequencing have refined diagnostic accuracy and enabled precision medicine. Emerging disease-modifying therapies are discussed, including small-molecule approaches targeting pathogenic pathways, RNA-based therapies (such as antisense oligonucleotides and RNA interference), and gene replacement or gene-editing strategies. In particular, advances in gene therapy and genome editing technologies have opened new possibilities for addressing underlying molecular defects, moving beyond symptomatic care toward causative treatment.
We further highlight the evolving therapeutic options for specific subtypes, such as transthyretin amyloid neuropathy, where targeted therapies have demonstrated meaningful clinical benefits and altered disease trajectories. Ongoing challenges related to long-term safety, treatment accessibility, and outcome measurement are critically reviewed. By integrating recent scientific discoveries with clinical perspectives, we aim to provide clinicians and researchers with a comprehensive framework for understanding this rapidly evolving field and to outline how emerging therapies may reshape patient care in the coming decade.

Executive Summary：
Dr. Yi-Chu Liao graduated from College of Medicine, National Yang-Ming University, and received her neurological residency training in Taipei Veterans General Hospital (VGH). She received her PhD training from Institute of medicine, Kaohsiung Medical University, and investigated the susceptibility genes of carotid atherosclerosis.

Dr. Liao is now a professor in National Yang-Ming Chiao-Tung University and the Chief of the Division of Peripheral Nervous System Disorders at Taipei Veterans General Hospital. Her main academic interests include genetics of cerebral small vessel disease and inherited neurological disorders. Over the years, Dr. Liao has been involved in the characterization of hereditary small vessel diseases in Taiwan, including CADASIL, HTRA1-related SVD, NIID and CSF1R-related leukoencephalopathy. Dr. Liao’s work has been recognized with several honors, including the Wu Ta-You Memorial Award from the National Science and Technology Council and Outstanding Paper Awards from the Taiwan Stroke Society.

Lecture Abstract：
Non-vascular leukoencephalopathies encompass a heterogeneous group of inherited and acquired white matter disorders that are increasingly recognized in adult neurology with the widespread use of MRI and next-generation sequencing. Their pathogenesis includes classic leukodystrophies caused by primary myelin or peroxisomal dysfunction, astrocytopathies, microgliopathies, metabolic defects in bile acid or lipid synthesis, and disorders of protein aggregation and nuclear inclusion formation. In this lecture, I will provide a practical, clinic-radiologic approach to non-vascular leukoencephalopathies that are particularly relevant for adult neurologists: Alexander disease, CSF1R-related leukoencephalopathy, neuronal intranuclear inclusion disease (NIID), X-linked adrenoleukodystrophy (ALD), cerebrotendinous xanthomatosis (CTX), and Krabbe disease (globoid cell leukodystrophy, GLD).

I will first briefly review general principles that distinguish non-vascular leukoencephalopathy from small vessel disease and then highlight the key clinical clues, typical MRI signatures, and genetic or biochemical tests that guide diagnosis for each disorder. Comparisons among the overlapping phenotypes and discussion about longitudinal MRI evolution will also be covered.

Through illustrative cases, I will discuss common diagnostic pitfalls, such as misattributing non-vascular leukoencephalopathy to “atypical MS” or vascular small vessel disease, and emphasize when to suspect an underlying genetic or metabolic cause. The goal of this talk is to provide a clinically oriented framework that helps neurologists recognize these rare but potentially treatable disorders earlier in their course and to integrate neuroimaging, clinical, and molecular findings in everyday practice.

Executive Summary：
Dr. Ni-Chung Lee (Nina) is a Pediatrician and a specialist in clinical genetics. She is the Clinical Professor at National Taiwan University Hospital and National Taiwan University Children’s Hospital. She received M.D. degree at National Yang-Ming University and was trained in Pediatrics at Taipei Veterans General Hospital. She had done fellowship in University of Florida. She completed her Ph.D. degree at National Taiwan University.

Dr. Lee has been interested in the molecular diagnosis for rare inherited metabolic diseases and congenital malformations. Her current research includes the developing gene therapy for rare genetic disorders and molecular diagnosis for rare Genetic syndromes.

Lecture Abstract：
With advances in next-generation sequencing (NGS), an increasing number of diseases can now be confirmed through molecular testing. Currently, most diagnostic strategies rely on whole-exome sequencing (WES) and whole-genome sequencing (WGS). Using WES/WGS, it is possible to identify single-nucleotide variants (SNVs), small insertions and deletions (indels), copy number variations (CNVs), and certain repeat expansion regions. These approaches have substantially increased the diagnostic yield for monogenic disorders, particularly those presenting with neurogenetic phenotypes. Furthermore, third-generation long-read sequencing enables the detection of complex structural variants, pseudogenes, and longer repeat expansions, and allows for haplotype phasing to determine whether variants are in cis or in trans. The integration of long-read sequencing technologies has further improved diagnostic yield. In this talk, I will share our experience with the clinical application of WGS in the diagnosis of neurogenetic diseases and discuss future perspectives in this field.