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--- cl:niemann-pick-type-c [on April 11, 2018]
+++ cl:niemann-pick-type-c [on September 16, 2018]
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+====== Niemann-Pick Type C Disease (NPC) ======
+===== Primer =====
+**Niemann-Pick type C disease (NPC)** is a rare, neurodegenerative, autosomal recessive disease, with an extremely heterogeneous clinical presentation. NPC may initially present in adulthood with psychosis, and when psychosis is associated with a vertical supranuclear gaze palsy, various dyskinesias, and seizures, NPC should be suspected.[([[https://www.ncbi.nlm.nih.gov/pubmed/12640083|Josephs, K. A., Van Gerpen, M. W., & Van Gerpen, J. A. (2003). Adult onset Niemann-Pick disease type C presenting with psychosis. Journal of Neurology, Neurosurgery & Psychiatry, 74(4), 528-529.]])]
+===== Physical Exam =====
+  * [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511378/|Abel, L. A., Bowman, E. A., Velakoulis, D., Fahey, M. C., Desmond, P., Macfarlane, M. D., ... & Walterfang, M. (2012). Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures. PloS one, 7(11), e50947.]]