ArticleJournal of medical case reports2025
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.
Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
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8 authors.
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Abstract
backgroundSpastic 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.
conclusionThis report highlights the genomic heterogeneity of spastic ataxia Charlevoix-Saguenay and emphasizes the importance of investigating the genetic landscape of the disease in diverse populations. Understanding the underlying genetic alterations and their geographic distribution contributes to improved diagnosis, management, and potentially targeted therapies for individuals affected by spastic ataxia Charlevoix-Saguenay worldwide.
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