One of the first observations made in SCA3 patient derived brain material were the intracellular aggregates in neurons of the ventral pons and less frequently in the substantia nigra, globus pallidus, dorsal medulla and dentate nucleus [16], a feature that was reproduced in cell and animal models overexpressing mutant ataxin-3 [77–79]. The gene discussed is ATXN3; the disease is Machado-Joseph disease.