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

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

doi:10.1038/s41439-026-00349-z

April 28, 2026Human Genome VariationOpen Access

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

View Full Paper

Ask AI

Bookmark

Share

Key Points

To investigate the genetic cause of autosomal recessive spastic ataxia of Charlevoix–Saguenay in affected Pakistani patients.
Case study of two patients from a Pakistani family
Exome sequencing was performed to identify genetic mutations
Analysis of identified variant in SACS gene
Homozygous 4-bp duplication in the SACS gene was identified
The mutation correlates with the clinical presentation of the disease
Affected family members showed the same genetic variant

Implication

Case report shows exome sequencing identified a 4-bp duplication in SACS linked to neurodegenerative disorder in patients.

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.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Bibi et al. (2026) studied this question.

synapsesocial.com/papers/69f154c0879cb923c4944fcb https://doi.org/10.1038/s41439-026-00349-z

View Full Paper

Ask AI

Bookmark

Share

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

Keep reading

Keep reading