Abstract
In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix–Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.Leu4045ArgfsTer8) in SACS correlating with disease in the affected family members.
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Acknowledgements
The authors gratefully acknowledge all participants for their volunteer participation in this study and for providing consent to publish their medical data. This project was partly supported by the Swiss National Science Foundation (Project numbers: 320030_212959 and IZSTZ0_216615) and Prix Claire et Selma Kattenburg to M.A.
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This study was approved (approval code: F.No. HU/ORIC/2024/2018, dated: December 12th, 2024) by the Ethical Review Committee of Hazara University Mansehra. Similarly, informed consents were obtained in written format from all participants for their inclusion in this study as well as for publication of patients’ medical data.
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Bibi, S., Munir, A., Ali, F. et al. Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix–Saguenay type in two Pakistani patients. Hum Genome Var (2026). https://doi.org/10.1038/s41439-026-00349-z
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DOI: https://doi.org/10.1038/s41439-026-00349-z
