Research identifies loss-of-function variants in the CAPN1 activator CD99L2 as a cause of X-linked spastic ataxia. This discovery enhances understanding of the genetic underpinnings of this rare neurological disorder.
loss of function variants in the capn1 activator cd99l2 cause x linked spastic ataxia
Original title: “Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.”