Walterfang, Mark; Macfarlane, Matthew; Looi, Jeffrey; Abel, Larry; Bowman, E; Fahey, M. C.; Desmond, P; Velakoulis, Dennis
Background and purpose: Niemann-Pick disease type C (NPC) is a progressive neurovisceral disorder associated with dystonia, ataxia and a characteristic gaze palsy. Neuropathological studies have demonstrated brainstem atrophy associated with neuronal inclusions and loss, and neurofibrillary tangles, although it is not known whether this pathology can be detected in vivo or how these changes relate to illness variables, particularly ocular-motor changes. Our aim was to utilize a method for...[Show more]
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