Raggio Víctor, Rey Andrea, Simoes Camila, Birriel Florencia, Rodriguez Soledad, Bentancor Kateryn, Tapié Alejandra, Spangenberg Lucía
Departamento de Genética, Facultad de Medicina, Universidad de la República, Gral. Flores 2125, 11800, Montevideo, Uruguay.
Cátedra de Neuropediatría, Facultad de Medicina, Universidad de la República, Gral. Flores 2125, 11800, Montevideo, Uruguay.
J Med Case Rep. 2025 Aug 19;19(1):412. doi: 10.1186/s13256-025-05480-z.
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.
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.
This 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.
沙勒沃伊 - 萨格奈痉挛性共济失调是一种罕见的常染色体隐性神经退行性疾病，其特征为痉挛、共济失调和周围神经病变的组合。尽管主要影响法裔加拿大血统的个体，但与沙勒沃伊 - 萨格奈痉挛性共济失调相关病例的地理分布正在扩大。
本研究报告了一名3岁乌拉圭女孩疑似患有常染色体隐性沙勒沃伊 - 萨格奈痉挛性共济失调的病例，证明了该疾病在以前未报告的地区也存在。外显子组测序分析在sacsin分子伴侣基因中发现了两个复合杂合变体，其中一个是新发现的。
本报告强调了沙勒沃伊 - 萨格奈痉挛性共济失调的基因组异质性，并强调了在不同人群中研究该疾病遗传图谱的重要性。了解潜在的基因改变及其地理分布有助于改善全球受沙勒沃伊 -萨格奈痉挛性共济失调影响个体的诊断、管理，并可能有助于开发针对性治疗方法。
