[10] Studies have supported the idea that mutated Atrophin-1 gathers in neurons and disrupts cell function.

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia.

[5] In patients with DRPLA, truncated ATN1 has been observed forming intranuclear aggregates that cause cell death.

[11] The symptoms of this disorder can be credited to the significant reduction of brain and spinal tissue observed in those afflicted with DRPLA.

[12] There are both juvenile-onset and late adult-onset variants of DRPLA, which show differing degrees of severity of specific symptoms.