Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
Abstract Background Spastic ataxia Charlevoix-Saguenay is a rare autosomal recessive neurodegenerative disorder characterized by a combination of spasticity, ataxia, and peripheral neuropathy. Although predominantly affecting individuals of French-Canadian descent, the geographic distribution of spa...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05480-z |
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