Annals of Indian Academy of Neurology | 2019
Juvenile Onset Niemann-Pick Type C Disease with Refractory Seizures
Abstract
Annals of Indian Academy of Neurology ¦ Volume 22 ¦ Issue 4 ¦ October-December 2019 539 Sir, Niemann–Pick disease type C (NP-C) is an autosomal recessively inherited neurovisceral disease. It may manifest itself as progressive cognitive decline (78%), gait and limb ataxia (70%), dysarthria, dystonia, dysphagia, and cataplexy. Vertical supranuclear gaze palsy is a robust clinical indicator of NP-C.[1]