# CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus‐Ataxia, and Sensorimotor Neuropathy

**Authors:** Rossella Bove, Annalaura Torella, Maria Novelli, Giacomina Ricciardi, Luca Pollini, Laura Masuelli, Roberto Bei, Mariateresa Zanobio, Francesco Pisani, Vincenzo Nigro, Vincenzo Leuzzi, Serena Galosi

PMC · DOI: 10.1002/mdc3.14347 · Movement Disorders Clinical Practice · 2025-01-29

## Full-text entities

- **Genes:** CAPRIN1 (cell cycle associated protein 1) [NCBI Gene 4076] {aka CONDCAC, GPIAP1, GPIP137, GRIP137, M11S1, NEDLAAD}
- **Diseases:** Myoclonus-Ataxia (MESH:C535287), Sensorimotor Neuropathy (MESH:C537197), Dementia (MESH:D003704)
- **Mutations:** Pro512Leu

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## References

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Source: https://tomesphere.com/paper/PMC12070162