Presented by The Advocacy for Neuroacanthocytosis Patients (based in London) and Neuroacanthocytosis Advocacy USA (based in the United States), this unique forum will
give attendees the opportunity to learn more about the work of the advocacy organizations and to hear from the perspectives of patients and carers. They will be joined by Adrian Danek and Ruth Walker. Save the date: July 31, 2023.
Zoom links and exact times will be shared via email invitation and social media. To be notified, please contact Kevin Peikert and request to be added to the email distribution list. Kevin may be reached at: Kevin.Peikert@med.uni-rostock.de
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The topics discussed and presenters at the 13th and 12th VPS13 forums respectively, were as follows:
13th Forum - May 22, 2023
Update on neuropathology of neuroacanthocytosis syndromes project
Ruth H. Walker
Department of Neurology, Mount Sinai School of Medicine, New York, and James J Peters Veterans Affairs Medical Center, New York, NY, USA
The story of hobbit and the novel superfamily of bridge-like lipid transfer proteins
ArashBashirullah
Division of Pharmaceutical Sciences, University of Wisconsin-Madison, WI, USA
VPS13 and Atg2 cooperate to drive autophagy
Martin Graef
Department for Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA
12th Forum - Mar 27th
The wide neuromuscular spectrum of VPS13A disease demonstrated by a case series
Anne Buchberger
Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany
Neuromuscular involvement in McLeod syndrome
Hans Jung
Department of Neurology, University Hospital and University Zurich, Zurich, Switzerland
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement (preliminary title)
Marina Melone & Pietro Chiurazzi
Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy & Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Roma, Italy.
Integrated analysis of skeletal muscle from Vps13a-/- mice revealed neuro-/myopathic (?) metabolic signature and impaired autophagy.
Lucia De Franceschi
Department of Medicine, University of Verona & AOUI Verona, Policlinico GB Rossi, Verona, Italy