Ataxin-7 (red) accumulating in nuclei (blue) near motor neurons (green) of the cervical spinal cord of an 8-week-old SCA7-266Q mouse

Spinocerebellar ataxia type 7 (SCA7) is a rare neurodegenerative disorder resulting from abnormal CAG repeats in the gene for ataxin-7. This mutation leads to pathological accumulation of the protein (shown in red) and results in progressive ataxia, retinal degeneration, and muscle weakness. No treatment currently exists for SCA7, and patients often succumb to respiratory failure and aspiration pneumonia. Currently, we are investigating the respiratory component of SCA7 in a mouse model of an aggressive infantile form SCA7-266Q. Long term, our goal is to harness AAV to treat the widespread dysfunction caused by this devastating disease.