Vol. 44 (2) 2023 Neuro endocrinology letters

Niemann-Pick type C disease: Case report and review of the literature.

: Niemann-Pick type C (NPC) disease is an autosomal recessive disease of lysosomal lipid storage disorder caused by mutations in either the NPC1 (95%) or the NPC2 (5%) gene. We report a case of a 23-year-old woman who initially showed ataxia, altered gait and tremor. She subsequently developed cognitive decline and psychiatric symptoms......