A study identifies a 4-bp duplication in the SACS gene as the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients. This discovery enhances understanding of the genetic basis of this rare neurological disorder.
duplication of 4 bp in sacs leads to autosomal recessive spastic ataxia of charlevoix saguenay type in two pakistani patients
Original title: “Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.”