Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.

ABSTRACT:

Background

Christianson syndrome (CS) is an x-linked recessive neurodevelopmental and neurodegenerative condition characterized by severe intellectual disability, cerebellar degeneration, ataxia, and epilepsy. Mutations to the SLC9A6 gene encoding NHE6 are responsible for CS, and we recently demonstrated that a mutation to the rat Slc9a6 gene causes a similar phenotype in the spontaneous shaker rat model, which exhibits cerebellar degeneration with motor dysfunction. In previous work, we used the PhP.eB-L7-Slc9a6-GFP adeno-associated viral (AAV) vector to demonstrate that gene replacement in Purkinje cells reduced the shaker motor and molecular phenotype.

Methods

We carried out a 20-week longitudinal study evaluating the impact of Purkinje cell-sp

SUBMITTER: Anderson CJ 

PROVIDER: S-EPMC11760745 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature