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 spastic ataxia Charlevoix-Saguenay-associated cases is expanding.

Case presentation

This study presents the case of a 3-year-old Uruguayan girl with suspected autosomal recessive spastic ataxia of Charlevoix-Saguenay, demonstrating the disease's presence in previously unreported locations. Exome sequencing analysis revealed two compound heterozygous variants in the sacsin molecular chaperone gene, one of which was novel.

Conclusion

This report highlights the genomic heterogeneity of sp

SUBMITTER: Raggio V 

PROVIDER: S-EPMC12363115 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature