PRESYMPOSIUM COURSE ON NBIA

October 17, 2024 (Thursday)

11:00 Registration
12:30 Opening of the course

• Session 1: Introduction of NBIA (Bülent Elibol, Murat Emre)
• Understanding of Neurodegeneration with Brain Iron Accumulation (NBIA): Zuhal Yapıcı
• MPAN: Clinical characteristics and longterm follow-up: Okan Doğu
• Session 2: Management strategies - Medical treatment and botulinum toxin in NBIA (Bülent Elibol, Sibel Ertan)
• Case discussions: Banu Özen Barut, Zeliha Matür, Gençer Genç
• Session 3: Management strategies - Deep Brain Stimulation in NBIA (Cenk Akbostancı, Atilla Yılmaz)
• From the neurosurgeon side: Atilla Yılmaz
• Presentation of Turkish cohort of NBIA with DBS: Özgür Öztop Çakmak
• Session 4: DBS round table and case discussions (Bülent Elibol, Ersoy Kocabıçak)
• Özgür Öztop Çakmak
• Ayşegül Gündüz
• Bilge Koçer
• Nazlı Durmaz Çelik
• Gül Yalçın Çakmaklı
• Gizem Güllü
• Pınar Topaloğlu
• Zeynep Tüfekçioğlu
• Esra Erkoç Ataoğlu


• Session 5: Electrophysiological aspects of NBIA (Barış Baslo)
• Peripheral nervous system and EMG in NBIA: Sadıka Özdemir
• Case presentation: Sezin Baslo
• Epilepsy and EEG in NBIA: Ayşe Deniz Elmalı

9^th INTERNATIONAL SYMPOSIUM ON NBIA

October 18, 2024 (Friday)

07:00 Registration

08:00 Welcome Address

08:30-12:00 Morning Sessions

Neurodegeneration with Brain Iron Accumulation (NBIA): General (Thomas Klopstock, Zuhal Yapıcı)
- From eponyms to mechanisms: A century of NBIA research: Adrian Danek (Germany)
- PKAN Therapy: Susan Hayflick (USA)
- The TIRCON registry – current state and future prospects: Thomas Klopstock (Germany)

Poster Session and Coffee Break (Yıldız Değirmenci, Murat Gültekin)

PLA2G6-associated neurodegeneration (PLAN) (Murat Emre, Manju Kurian)
- The Phenotype and Genotype of PLA2G6-Related Parkinsonism: Kailash Bhatia (UK)
- Preparing for gene therapy for PLAN: Manju Kurian (UK)
- Animal models for the investigation of gene therapy in INAD: Ahad Rahim (UK)

12:00-13:00 Lunch

13:00-18:30 Afternoon Sessions

Pantothenate kinase-associated neurodegeneration (PKAN) (Thomas Klopstock)
- Coenzyme A journey: Ody Sibon (The Netherlands)
- PKAN iPS-derived neurons and connected phenotypes: Sonia Levi (Italy)
- Clinical scales and other biomarkers to determine in PKAN: Robert VV Spaull (UK)
- Clinical aspects of PKAN and possible treatment based on deep brain stimulation: Giovanna Zorzi (Italy)
- Exploring New PKAN Therapies: Current Efforts & Challenges: Choukri Ben Mamoun (USA)

Poster Session and Coffee Break (Yıldız Değirmenci, Murat Gültekin)

Beta-propeller Protein-Associated Neurodegeneration (BPAN) (Patricia Wood)
- Human WIPI β-propeller function in autophagy and neurodegeneration: Tassula Proikas-Cezanne (Germany)
- Evaluation of Age-Related Changes in the Autophagy Flux Pathway in BPAN Patients, Interactions with Iron Accumulation and Pathways such as NRF2, and the Effects of Different novel molecules including Autophagy Inducers: Petek Ballar (Türkiye)
- Cardiac glycosides for the treatment of BPAN and Delineation of the radiological phenotype of BPAN: Apostolos Papandreou (UK)

Poster Session and Coffee Break (Yıldız Değirmenci, Murat Gültekin)

Aceruloplasminemia (Thomas Klopstock)
- Protein replacement and gene therapy approaches in aceruloplasminemia: studies in ceruloplasmin KO mice: Massimo Alessio (Italy)
- A plasma-derived ceruloplasmin from the optimization of plasma fractionation: Andrea Caricasole (Italy)
- Recombinant ceruloplasmin as a tool to study the prevalence of Aceruloplasminemia in gnomAD: Nicole Ziliotto (Italy)

Awards and selected poster presentations (Patricia Wood, Fatemeh Mollet)

October 19, 2024 (Saturday)

08:30-12.30 Morning Sessions

Kufor-Rakeb Syndrome (KRS) (Zuhal Yapıcı)
- Cellular aspects of iron accumulation in KRS patients with different type of ATP13A2 mutations: Arzu Karabay (Türkiye)

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)
- Autophagy and MPAN: Arcangela Iuso (Germany)
- Putative involvement of neuroinflammation in MPAN and potential for immunotherapy: Erdem Tüzün (Türkiye)
- Elucidating the role of c19orf12 in triglyceride homeostasis:Rajnish Bharadwaj (USA)

Poster Session and Coffee Break (Yıldız Değirmenci, Murat Gültekin)

COASY protein-associated neurodegeneration (CoPAN) (Valeria Sonia Tiranti)
- Deciphering COASY-induced neurodegeneration: new variants, new phenotypes and insights into the transcriptomic profile of patient fibroblasts: Valeria Sonia Tiranti (Italy)
- COASY-associated diseases in mouse: not just a matter of neurodegeneration: Ivano Di Meo (Italy)
- Zebrafish models of PKAN and COPAN: Dario Finazzi (Italy)


12.30-13:00 Highlights and Closing remarks