A. Corbelli

AAV-mediated SIL1 gene therapy prevents cerebellar degeneration and ataxia in a mouse model of Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a rare early-onset multisystem disorder characterized primarily by cerebellar ataxia and myopathy and caused by loss-of-function mutations in SIL1. No disease-modifying therapy is available. We investigated whether adeno-associated virus (AAV)-mediated gene therapy could prevent neurologic...