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

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