Examination showed ataxia, moderate cognitive impairment, and vertical gaze palsy. EEG revealed diffuse slowing and disorganization of background rhythms.
[ncbi.nlm.nih.gov]
Other features presenting later in life may include dystonia and vertical supranuclear gaze palsy, dementia and psychiatric manifestations.
[genedx.com]
Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic
[clinicaltrials.gov]