Early AAV9-mediated SLC9A6 gene replacement preserves cerebellar structure and motor function in the shaker rat model of Christianson syndrome

Early postnatal intracerebroventricular AAV9-mediated SLC9A6 gene replacement at 1 x 10^11 vector genomes preserves cerebellar volume and prevents gait ataxia in shaker rats.

• Why it matters: Christianson syndrome from SLC9A6 loss of function leads to cerebellar atrophy and ataxia, and timing-dependent efficacy remains a key barrier for gene replacement therapies.
• What they did: Neuronal-targeted AAV9 delivery was tested with promoter selection, dosing, and treatment timing, using structural MRI and molecular assays for restored NHE6 expression and cerebellar markers.
• The result: Early treatment kept gait ataxia statistically indistinguishable from wildtype controls across longitudinal follow-up, while later dosing showed transient benefits, and protein markers enabled prediction of motor coordination.

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