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Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix–Saguenay type in two Pakistani patients

Year: 2026

Type: article

Study design: Case Report

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.

Source: Human Genome Variation

DOI: 10.1038/s41439-026-00349-z

Authors: Saba Bibi, Asad Munir, Fawad Ali, Helen Nabiryo Frederiksen, Sabawoon Shah, Abdur Rashid, Sergey Oreshkov, Shahab Uddin, Hamid Ur Rahman, Shumaila Noreen, Mukhtar Ullah, Muhammad Ansar, Atta Ur Rehman

Institutions: Hazara University, Saidu Teaching Hospital, Fondation Asile des Aveugles, University of Lausanne, Dow University of Health Sciences

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,190

Funders: National Science Foundation, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Awards: Genetic of autosomal recessive intellectual disability and developmental delay, Harnessing the power of consanguinity to identify genetic causes of visual impairment

OpenAlex ID: W7155984641

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