# Charlevoix-Saguenay spastic ataxia: a novel mutation in the SACS gene

**Authors:** Lan Li, Xiuhua Tian, Junfeng Chen, Xiaoyan Guo

PMC · DOI: 10.1007/s13760-025-02813-z · 2025-06-05

## Full-text entities

- **Genes:** SACS (sacsin molecular chaperone) [NCBI Gene 26278] {aka ARSACS, DNAJC29, PPP1R138, SPAX6}
- **Diseases:** Charlevoix-Saguenay spastic ataxia (MESH:C536787)

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12518459/full.md

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Source: https://tomesphere.com/paper/PMC12518459