Abstract
Loss-of-function mutations in the sacsin (SACS) gene lead to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), impairing the function of sacsin. Genotype-phenotype correlations are still unclear for the different mutations reported in ARSACS. Here, we present a Turkish ARSACS family in whom the novel homozygous frameshift mutation in SACS c.12461delC (p.Pro4154GlnfsTer20) was detected by next-generation sequencing (NGS). The index patient was admitted with progressive spastic ataxia and dysarthria. Since no common mutation in autosomal recessive (AR) cerebellar ataxias, whole gene sequencing provide an advantage to detect novel mutations and may be more effective for clinical diagnosis.
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Acknowledgments
The authors would like to thank the family for their generous participation. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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Samanci, B., Gokalp, E.E., Bilgic, B. et al. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neurol Sci 42, 2969–2973 (2021). https://doi.org/10.1007/s10072-021-05117-1
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DOI: https://doi.org/10.1007/s10072-021-05117-1