Scientific Program
PRESYMPOSIUM COURSE ON NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA)October 17, 2024 (Thursday) |
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| 10:00 | Registration |
| 12:10 | Opening of the Course Bülent Elibol, Murat Terzi (President of Turkish Neurological Society) |
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1. Session: General Perspective of Neurodegeneration with Brain Iron Accumulation (NBIA) Chairs: Bülent Elibol, Murat Emre |
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| 12:20 - 12:50 |
Introduction of NBIA Zuhal Yapıcı |
| 12:50 - 13:20 |
Clinical Pearls: Recognizing NBIA Patients
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| 13:20 - 13:50 |
Clinical Characteristics and Longterm Follow-up of MPAN Okan Doğu |
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2. Session: Medical Treatment and Botulinum Toxin in NBIA Chairs: Bülent Elibol, Sibel Ertan |
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| 13:55 - 14:20 |
Case Discussions Banu Özen Barut, Zeliha Matür, Gençer Genç |
| 14:20 - 14:40 |
Coffee Break
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3. Session: Deep Brain Stimulation (DBS) in NBIA Chairs: Cenk Akbostancı, Atilla Yılmaz |
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| 14:40 - 15:00 |
DBS in NBIA from a Neurosurgeon's Perspective Atilla Yılmaz |
| 15:00 - 15:15 |
Presentation of Turkish Cohort of NBIA with DBS Özgür Öztop Çakmak |
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4. Session: DBS Round Table and Case Discussions Chairs: Bülent Elibol, Ersoy Kocabıçak |
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| 15:15 – 16:30 | Özgür Öztop Çakmak, Ayşegül Gündüz, Bilge Koçer, Gül Yalçın Çakmaklı, Pınar Topaloğlu, Zeynep Tüfekçioğlu, Esra Erkoç Ataoğlu |
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5. Session: Electrophsiological Aspects of NBIA Chairs: Barış Baslo, Nerses Bebek |
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| 16:30 - 16:50 | Peripheral Nervous System Involvement and EMG Findings in NBIA Sadıka Özdemir |
| 16:50 - 17:00 | Case Presentation: Sezin Baslo |
| 17:00 - 17:20 |
Epilepsy and EEG in NBIA Ayşe Deniz Elmalı |
| 17:20 - 17:40 | Highlights and Closing of the NBIA Course |
| 18:30 - 22:00 | Welcome Reception for the 9th INTERNATIONAL SYMPOSIUM on NBIA |
9th INTERNATIONAL SYMPOSIUM ON NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA)October 18, 2024 (Friday)For more information, please click on the speaker's name or title |
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| 07:00 | Registration |
| 08:00 | Welcome Address |
| 08:30 - 10:00 |
Neurodegeneration with Brain Iron Accumulation (NBIA): General Chairs: Zuhal Yapıcı, Thomas Klopstock |
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From Eponyms to Mechanisms: A Century of NBIA Research
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Entering the Therapeutics Era for NBIA Disorders
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The TIRCON Registry – Current State and Future Prospects Thomas Klopstock (Germany) |
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| 10:00 - 10:30 | Poster Sessions Chair: Pervin İşeri
Coffee Break
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| 10:30 - 12:00 |
PLA2G6-Associated Neurodegeneration (PLAN) Chairs: Murat Emre, Manju Kurian |
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The Phenotype and Genotype of PLA2G6-Related Parkinsonism
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Preparing for Gene Therapy for PLAN
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Animal Models for the Investigation of Gene Therapy in INAD Ahad Rahim (UK) |
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| 12:00 - 13:00 |
Lunch
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| 13:00 - 14:50 |
Pantothenate Kinase-Associated Neurodegeneration (PKAN) Chairs: Thomas Klopstock, Ody Sibon |
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From Fruit Flies to Patients in Less Than 5 Years |
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PKAN hiPS-derived Astrocyte Models Highlight the Molecular Mechanism of Iron Accumulation |
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Validating Clinical and Ophthalmology Outcome Measures for PKAN |
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Clinical Aspects of PKAN and Possible Treatment Based on Deep Brain Stimulation |
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Exploring New PKAN Therapies: Current Efforts & Challenges |
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| 14:50 - 15:20 | Poster Sessions Chair: Pervin İşeri
Coffee Break
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| 15:20 - 16:30 |
Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Chairs: Bülent Elibol, Petek Ballar Kırmızıbayrak |
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Human WIPI β-Propeller Function in Autophagy and Neurodegeneration |
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Modulating Iron Homeostasis, Autophagy and Oxidative Stress Pathways in BPAN-derived fibroblasts: Active Compounds for Potential Therapy
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Cardiac Glycosides for the Treatment of BPAN and Delineation of the Radiological Phenotype of BPAN Apostolos Papandreou (UK) |
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| 16:30 - 17:00 | Poster Sessions Chairs: Yıldız Değirmenci, Murat Gültekin
Coffee Break
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| 17:00 - 17:55 |
Aceruloplasminemia Chairs: Thomas Klopstock, Sonia Levi |
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Protein Replacement and Gene Therapy Approaches in Aceruloplasminemia: Studies in Ceruloplasmin KO Mice |
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A Plasma-Derived Ceruloplasmin from the Optimization of Plasma Fractionation |
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Recombinant Ceruloplasmin as a Tool to Study the Prevalence of Aceruloplasminemia in GnomAD |
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| 17:55 - 18:15 |
Travel and Poster Awards
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| 18:15 - 18:30 |
End of the Day: Urgent Needs and Next Steps Thomas Klopstock |
| 20:00 |
Dinner
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9th INTERNATIONAL SYMPOSIUM ON NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA)October 19, 2024 (Saturday)For more information, please click on the speaker's name or title |
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| 08:30 - 09:15 |
Kufor-Rakeb Syndrome (KRS) and Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN) Chair: Bülent Elibol |
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Cellular Aspects of Iron Accumulation in Kufor-Rakeb Syndrome Patients with Different Type of ATP13A2 Mutations Arzu Karabay (Türkiye) |
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Patient Led Research Advances in Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN/SPG35) |
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| 09:15 - 10:25 |
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)-I Chair: Iwona Kurkowska-Jastrzębska |
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Alteration of Autophagy and Lipid Metabolism in MPAN: What We Know and Still Don't Know |
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Elucidating the Role of C19ORF12 in Triglyceride Homeostasis |
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Putative Involvement of Neuroinflammation in MPAN and Potential for Immunotherapy
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| 10:25 - 10:45 | Poster Sessions Chairs: Yıldız Değirmenci, Murat Gültekin
Coffee Break
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| 10:45 - 11:15 |
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)-II Chair: Thomas Klopstock |
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MPAN/PKAN Biomarkers
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Validated Scale for Neurological Status Assessment in MPAN Patients |
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| 11:15 - 11:40 |
New Insights from MRI Research in NBIA Chair: Zuhal Yapıcı |
| 11:40 - 12:30 |
COASY Protein-Associated Neurodegeneration (CoPAN) Chairs: Valeria Sonia Tiranti, Giovanna Zorzi |
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Deciphering COASY-Induced Neurodegeneration: New Variants, New Phenotypes and Insights into the Transcriptomic Profile of Patient Fibroblasts |
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COASY-Associated Diseases in Mouse: Not Just a Matter of Neurodegeneration |
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Zebrafish Models of PKAN and COPAN |
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| 12:30 - 12:45 |
End of the Day: Urgent Needs and Next Steps |
| 12:45 - 13:00 | Highlights and Closing Remarks |
