Homozygous genetic alterations of CLN8 are associated with neuronal ceroid lipofuscinosis (NCL) (OMIM #600143), a genetically heterogeneous group of neurodegenerative disorders mainly characterized by seizures and progressive neurological deterioration, which result in dementia, ataxia, visual failure, and various forms of abnormal movement. The gene discussed is CLN8; the disease is cerebellar ataxia.