AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants
Yuzaki and colleagues identify biallelic CBLN1 variants as a cause of early-onset hereditary ataxia and show that loss of extracellular CBLN1 disrupts cerebellar synapses. Astrocyte-targeted AAV delivery restores synaptic CBLN1 and rescues circuit and motor dysfunction, establishing extracellular synaptic organizer replacement as a therapeutic strategy.