July 2019 By PsychDB.com

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cl:niemann-pick-type-c [September 2018]
PsychDB.com
cl:niemann-pick-type-c [July 2019] (current)
PsychDB.com [Primer]
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 ====== Niemann-Pick Type C Disease (NPC) ====== ====== Niemann-Pick Type C Disease (NPC) ======
 ===== Primer ===== ===== Primer =====
-**Niemann-Pick ​type 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.]])]+**Niemann-Pick ​Type 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 ===== ===== 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.]]   * [[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.]]