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. 2022 Nov;49(6):804-808.
doi: 10.1017/cjn.2021.222. Epub 2021 Sep 16.

Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C

Jasmine Parihar  1 , Deepa Dash  1 , Bhawana Aggarwal  2 , Madhulika Kabra  2 , Roopa Rajan  1 , Deepti Vibha  1 , Rajesh Kumar Singh  1 , Rohit Bhatia  1 , Neerja Gupta  2 , Manjari Tripathi  1
Affiliations

Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C

Jasmine Parihar et al. Can J Neurol Sci. 2022 Nov.

Abstract

Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4-17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

Keywords: Dystonia; Movement disorders; NPC1; NPC2; Niemann-Pick.

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