- Time
- Topic
- Speaker
- Moderator
- 16:00-16:30
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The diversity of clinical features and biomarkers of progressive supranuclear palsy
- Speaker:
Shen-Yang Lim
- Moderator:
Ching-Song Lu
- Shen-Yang Lim
- MD FRACP
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Professor, University of Malaya, Kuala Lumpur, Malaysia
E-mail:limshenyang@gmail.com
Executive Summary:
Dr. Lim is a Neurologist and Professor at the University of Malaya, Kuala Lumpur, Malaysia, where he runs a busy clinical practice specializing in Parkinson's and related disorders. Dr. Lim has also published extensively in these areas, in major scientific journals.
He has been an active member of the International Parkinson & Movement Disorder Society (MDS), being closely involved in multiple task forces and committees. He is currently Chair of the MDS Asian-Oceanian Section (AOS).
Dr. Lim's main research interests are in the following areas: (i) PD (particularly genetics and genotype-phenotype correlations; evidence-based medicine/clinical trials; non-motor features including gastrointestinal aspects; comorbidities; patient-centred care; and rating scales/disease staging); (ii) Parkinson-plus syndromes and other miscellaneous/"orphan" movement disorders, including progressive supranuclear palsy (PSP).
Lecture Abstract:
An expanded clinical spectrum of progressive supranuclear palsy (PSP) has been recognized. Not only the classical Richardson syndrome (PSP-RS) is encountered, but also PSP variants such as PSP with parkinsonian phenotype (PSP-P), progressive gait freezing phenotype (PSP-PGF), and frontal lobe cognitive/behavioural phenotype (PSP-F).
There are often characteristic clues to the clinical diagnosis of PSP, sometimes allowing a preliminary diagnostic impression to be formed, even as the patient first makes his/her way into the consulting room. In this lecture, a rich collection of original videos and images is shown, depicting these “tell-tale” features.
Some recent research findings that run counter to the “conventional wisdom”, e.g., the presence in PSP of REM sleep behaviour disorder (RBD) symptoms and visual hallucinations - long considered pathognomonic of synucleinopathies - are also highlighted, emphasizing the need for careful history-taking and clinical observation, and for further research into clinical phenomenology and pathophysiology. The possible role of ethnicity in disease presentation is also reviewed.
Biomarkers are discussed, particularly recent genetic findings in PSP in Asian PSP cohorts, which appear to overlap other neurodegenerative disorders including Parkinson’s disease (e.g., in genes involved in lysosomal function). Other modalities such as neuroimaging and seed amplification assays are also briefly covered.
- Time
- Topic
- Speaker
- Moderator
- 16:30-17:00
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The application of Tau PET and related biomarkers in 4R tauopathy parkinsonism syndrome
- Speaker:
Cheng-Hsuan Li
- Moderator:
Yi-Hsin Weng
- Cheng-Hsuan Li
- MD
-
Attending physician, Department of Neurology, National Taiwan University Hospital Hsinchu Branch
Department of Neurology, National Taiwan University Hospital,
E-mail:scarecrow210856@gmail.com
Executive Summary:
Dr. Li was graduated from National Taiwan University in 2013 and completed his neurology residency training at National Taiwan University Hospital (NTUH), Taiwan. He is currently a clinical neurologist in NTUH and its Hsinchu branch. His clinical and research interests focus on parkinsonian disorders with the application of biomarkers. He has been engaged in the tau PET research in patients with parkinsonian neurodegenerative disorders in NTUH.
Lecture Abstract:
Tau PET imaging has been promising for quantify tau pathology in vivo, and has been widely applied in the field of Alzheimer's disease and dementia. More studies are exploring its diagnostic use in four-repeat (4R) tauopathy parkinsonism disorders, specifically progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Here we briefly review the literature for tau PET imaging with first- and second-generation tau tracers and its relationship with biomarkers in PSP and CBD.
- Time
- Topic
- Speaker
- Moderator
Executive Summary:
Don Cleveland is Professor and Chair of Cellular and Molecular Medicine at UC San Diego. He has been elected to the U.S. National Academy of Sciences and National Academy of Medicine. He is an elected fellow of the American Association for Cancer Research. He has identified principles of genome instability in cancer, demonstrating that single chromosome missegregation can trigger repeated chromosome shattering (chromothripsis) that initiates and drives genome evolution in cancer. For this work, in 2019 he became the 15th recipient of India’s Genome Valley Excellence Award and the 2022 E.B. Wilson Medal from the American Society for Cell Biology. In neurosciences, he purified and characterized the first microtubule associated protein – tau – which misassembles in affected neurons in Alzheimer’s disease and chronic brain injury. He uncovered mechanisms underlying the major genetic forms of Amyotrophic Lateral Sclerosis (ALS) and developed “designer DNA drugs” for silencing disease-causing genes responsible for the major diseases of the nervous system, with clinical trials now ongoing in ALS, Huntington’s, Parkinson’s, and Alzheimer’s diseases. For his efforts in neurosciences, he received the 2018 Breakthrough Prize in Life Sciences and the 2023 Rainwater Prize.
Lecture Abstract:
Silencing or enhanced expression of genes that are causative or contributory to the major diseases of the human nervous system has been achieved using a clinically feasible approach with a new class of “designer DNA drugs”, also known as antisense oligonucleotides (ASOs). The approach is now a standard of care for the fatal childhood disease spinal muscular atrophy and an inherited form of the fatal paralytic disease Amyotrophic Lateral Sclerosis (ALS). Clinical trials with designer DNA drugs are ongoing to suppress synthesis of LRRK2 in familial Parkinson’s disease caused by mutation in LRRK2 and to suppress -synuclein in sporadic Parkinson’s. Additional trials are underway in Alzheimer’s disease (targeting tau), Huntington’s disease (targeting huntingtin), and other forms of ALS (targeting FUS or restoring stathmin-2). Finally, this class of drugs can also be used to drive recovery of damaged nigral neurons and to reactivate neurogenesis in dormant neurogenic niches of the aging mammalian nervous system. Development of methods to generate replacement neurons has opened a new era for treating neurodegenerative diseases.