Scientific Program
PRESYMPOSIUM COURSE ON NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA)Turkish & English |
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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 Welcome Cocktail The welcome reception will take place on a boat on the Bosphorus. 17:45 Departure for Course Participants from Istanbul University The boat will depart from Ahirkapi Pier at 18:30. It is recommended to dress appropriately for the weather conditions. According to weather forecasts, the temperature will be around 16 degrees Celsius. The weather will be cloudy, but rain is not expected. 22:00 Departure from Ahirkapi Pier to Kalyon Hotel, Recital Hotel, Armada Hotel and Sultanahmet Square |
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 Zuhal Yapıcı and Thomas Klopstock |
| 08:30 - 10:00 |
Neurodegeneration with Brain Iron Accumulation (NBIA): General Chairs: Murat Emre, 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
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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, Sibel Uğur İşeri |
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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 |
Gala Dinner
Date : Friday, October 18, 2024 The gala dinner will take place at Kalyon Hotel. 18:45 Departure from Central Campus to Kalyon Hotel for the Gala Dinner |
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 |
