Roving Eye and Head in a Patient With Genetic Creutzfeldt-Jakob Disease

An 81-year-old woman was diagnosed with genetic Creutzfeldt-Jakob disease based on dementia, cortical ribboning in diffusion-weighted MRI, and V180I mutation in the prion protein gene.The CSF real-time quaking-induced conversion test was negative.She developed akinetic mutism, displaying periodic alternating gaze deviation synchronized with head turning persisting for several hours after 4 years of onset (Video 1).Progressing into a coma with spontaneous eye opening, she exhibited an absent menace reflex.The pupillary light reflex and cephalo-ocular reflex remained unaffected.MRI indicated severe cortical atrophy without brainstem lesions (Figure).Roving eye movement is a distinctive ocular phenomenon of stroke, hypoxic/metabolic encephalopathy, and prion disease. 1,2The occurrence is attributed to extensive bilateral hemispheric damage with relatively intact oculomotor function in the upper brainstem; however, its synchronization with head movement remains unclear.The underlying neural mechanism remains elusive, but the absence of cortical regulation and spontaneous activity of the vestibular nuclei may be responsible.