ataxia

Intriguingly, something similar seems to be happening in another form of ataxia, SCA2, which also interferes with protein recycling.

These include inherited diseases that lead to ataxia, or loss of muscle control, and early-onset dementia.

Degeneration of Purkinje cells is associated with various neurodevelopmental and neurodegenerative disorders, including autism spectrum disorder and cerebellar ataxia, a condition that affects muscle movement.

Because RNA repeats are present in similar diseases, like ALS and certain types of spinocerebellar ataxia, the door is open to treatments for these other fatal, degenerative diseases.

His research now focuses on addressing language difficulties in autistic people and in people with ataxia, Parkinson’s disease or neurodegenerative disorders.