Images in Neuroscience: AnswerPsychosis and vertical supranuclear opthalmoplegia
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Answer
3. Niemann-Pick disease type C.
Discussion
Niemann-Pick type C disease (NPC) is an autosomal recessive lipid storage disorder that may present in childhood, adolescence or adulthood.1 Biochemically and phenotypically distinct from Niemann-Pick diseases type A and B, NPC has two distinct genetic foci, with 95% of incidences caused by aberrations in the NPC1 gene on 18q11-12, and 5% by mutations in the NPC2 gene on 14q24.3. Both NPC1 and NPC2 are involved in sterol processing, and dysfunction results in late endosomal accumulation of
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