Upcoming 14th VPS13 Forum - July 31, 2023
Topic: View from the patient advocacy organizations
by Kevin Peikert

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




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


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






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