Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix–Saguenay type in two Pakistani patients
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.
Authors
- Atta Ur Rehman (ORCID: https://orcid.org/0000-0002-5591-1835)
- Fawad Ali (ORCID: https://orcid.org/0000-0001-9152-2549)
- Hamid Ur Rahman (ORCID: https://orcid.org/0000-0001-9469-8689)
- Helen Nabiryo Frederiksen
- Muhammad Ansar (ORCID: https://orcid.org/0000-0001-7299-3185)
- Abdur Rashid (ORCID: https://orcid.org/0000-0001-8015-6803)
- Shumaila Noreen (ORCID: https://orcid.org/0000-0002-7431-3056)
- Asad Munir (ORCID: https://orcid.org/0000-0001-5461-3599)
- Mukhtar Ullah (ORCID: https://orcid.org/0000-0003-0911-0831)
- Sergey Oreshkov (ORCID: https://orcid.org/0000-0003-2030-5605)
- Sabawoon Shah
- Saba Bibi
- Shahab Uddin (ORCID: https://orcid.org/0009-0000-9503-3056)
Institutions
- Hazara University (PK)
- Saidu Teaching Hospital (PK)
- Institut thématique Génétique, génomique et bioinformatique (FR)
- Fondation Asile des Aveugles (CH)
- University of Lausanne (CH)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2026-04-28
- DOI
- https://doi.org/10.1038/s41439-026-00349-z
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung