# Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders

**Authors:** Fabrizio Vacca, Binnaz Yalcin, Lars Kaestner, Adrian Danek, Kevin Peikert, Ruth H. Walker, Muhammad Ansar

PMC · DOI: 10.5334/tohm.1124 · Tremor and Other Hyperkinetic Movements · 2026-01-09

## TL;DR

This meeting brought together experts to discuss neuroacanthocytosis, Cohen syndrome, and related disorders, focusing on recent research and fostering collaboration.

## Contribution

The meeting expanded its scope to include Cohen syndrome, highlighting shared molecular features among VPS13-related disorders.

## Key findings

- The meeting featured 20 oral communications and two keynote lectures on recent advancements in the field.
- Patient involvement was emphasized through scientific sessions and parallel patient-oriented events.

## Abstract

The 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12th–14th, 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on neuroacanthocytosis syndromes and associated disorders. The program further broadened its scope to include Cohen syndrome, reflecting the growing recognition of shared molecular features and common unsolved questions across VPS13-related disorders.

The aim of the meeting was to present the latest updates in the field, from both clinical and basic science perspectives, and to facilitate collaboration and exchange of ideas among researchers, clinicians, and the patient community. An important aspect of these meetings is the active involvement of patients, their relatives and caregivers, who were invited to attend scientific sessions, in addition to participating in parallel patient-oriented sessions. A total of 20 oral communications were presented in eight scientific sessions accompanied by two keynote lectures, short talks by selected poster presenters, and the 2025 “Glenn Irvine Prize” award lecture.

## Linked entities

- **Genes:** Vps13 (Vacuolar protein sorting 13) [NCBI Gene 35693]
- **Diseases:** Neuroacanthocytosis (MONDO:0016987), Cohen syndrome (MONDO:0008999)

## Full-text entities

- **Diseases:** Cohen Syndrome (MESH:C536438), VPS13-Related Disorders (MESH:D019973), Neuroacanthocytosis (MESH:D054546)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12785667/full.md

## References

30 references — full list in the complete paper: https://tomesphere.com/paper/PMC12785667/full.md

---
Source: https://tomesphere.com/paper/PMC12785667