Patients with RFC1-related disorders may develop varying degrees of cerebellar ataxia, neuropathy, and vestibular hypofunction, as well as in combination with other symptoms, such as pyramidal tract disorder, autonomic dysfunction, chronic cough, parkinsonism, involuntary movement, cognitive dysfunction, muscle fasciculation, and hyperCKemia (2–4). The gene discussed is RFC1; the disease is cerebellar ataxia.