[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis]

Abstract

The main historical steps leading to the concept of Niemann-Pick type C disease as an intracellular lipid and more specifically a cholesterol transport disorder are summarized; the current stage of knowledge and research hypotheses regarding the function of the NPC1 and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The various approaches for laboratory diagnosis of patients are finally discussed.