COQ8A and aceruloplasminemia: To date, autosomal recessive mutations in ADCK3 have only been identified in 22 patients from 13 families, and these mutations have been associated with clinically heterogeneous diseases.9 Patients usually present with a complex neurological phenotype, with cerebellar ataxia as the predominant manifestation.8–11 In this family, cerebellar symptoms were relatively mild compared to the disabling myoclonus and involuntary movements which affected both siblings.