Abstract Details

Title Spectrum of Movement disorders of late-onset Niemann- Pick disease type C

Topic Movement Disorders

Presentation(s) P15 - Poster Session 15 (5:30 PM-6:30 PM)

Poster/Presentation
Number 5-004

Background Niemann Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with a highly variable age of onset and clinical features, ranging from fatal neonatal disease to adult-onset chronic progressive disease. Disease onset in adulthood is rare, with a few case reports and case series reported in the literature. Various movement disorders have been reported as the presenting feature of this rare disease.

Objective To describe various movement disorders presenting in adult onset Niemann Pick disease type C.

Design/Methods

Results

We describe 5 cases of NPC with adult/adolescent onset with various movement disorder as part of the clinical spectrum. One or more than one type of movement disorder and vertical supranuclear gaze palsy were part of the clinical presentation in all cases, along with other features like behavioral abnormalities and cognitive decline. A diagnostic delay of 4-17 years from the symptom onset was found in this case series.

Conclusions

This case series highlights the spectrum of movement disorders in patients with adult onset NPC. A high index of clinical suspicion of NPC should be kept in patient presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology as presenting symptom at any age. This can help in early diagnosis of this rare neurodegenerative disorder.

Authors/Disclosures
Jasmine Parihar, DM (All India Institute of Medical Sciences, New Delhi.) PRESENTER	Dr. Parihar has nothing to disclose.
Deepa Dash, MD, DM	Dr. Dash has nothing to disclose.
	No disclosure on file
	No disclosure on file
Roopa Rajan (Sree Chitra Tirunal Institute for Medical Sciences and Technology)	Roopa Rajan has received research support from DBT. Roopa Rajan has received research support from DST-SERB. The institution of Roopa Rajan has received research support from Michael J Fox Foundaton.
Deepti Vibha, MD (All India Institute of Medical Sciences)	Dr. Vibha has nothing to disclose.
Rajesh Kumar Singh	No disclosure on file
Rohit Bhatia, MD, MBBS, DM	Dr. Bhatia has nothing to disclose.
	No disclosure on file
Manjari Tripathi, MD (ALL INDIA INSTITUTE OF MEDICAL SCIENCES)	Dr. Tripathi has nothing to disclose.