- Last edited on January 28, 2021
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====== Niemann-Pick Type C Disease (NPC) ====== | ====== Niemann-Pick Type C Disease (NPC) ====== | ||
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===== Primer ===== | ===== 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.]])] | **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.]])] |