# Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival

**Authors:** Silvestre Cuinat, Christèle Dubourg, Gaël Nicolas, Jean‐Madeleine de Sainte Agathe, Sylvie Odent, Laurent Pasquier, Audrey Riou

PMC · DOI: 10.1002/mdc3.70152 · Movement Disorders Clinical Practice · 2025-05-30

## Full-text entities

- **Genes:** VAC14 (VAC14 component of PIKFYVE complex) [NCBI Gene 55697] {aka ArPIKfyve, TAX1BP2, TRX}
- **Diseases:** Striatonigral Degeneration (MESH:D020955)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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## References

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Source: https://tomesphere.com/paper/PMC12528970