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Archives de pédiatrie
Volume 17, n° S2
pages 41-44 (juin 2010)
Doi : 10.1016/S0929-693X(10)70010-5
Maladie de Niemann-Pick type C : aspects historiques et actuels, diagnostic biochimique et génétique
Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis

Marie T. Vanier 1, 2
1 INSERM, Unité 820, Faculté de Médecine Lyon-Est / Laennec, 7, Rrue Guillaume Paradin 69372 Lyon cedex 8, France 
2 Hospices Civils de Lyon, Laboratoire Gillet-Mérieux, Hôpitaux Est, 69500 Bron, France 


Les étapes de la genèse du concept de maladie de Niemann-Pick type C en tant qu’entité spécifique et pathologie du transport intracellulaire des lipides et, en particulier, du cholestérol sont rappelées. Les découvertes récentes sur le rôle des protéines NPC1 et NPC2 dans l’export du cholesterol lysosomal et la problématique actuelle concernant la physiopathologie de la dysfonction cérébrale sont résumées. Les différentes approches du diagnostic de laboratoire de la maladie sont enfin exposées et discutées.

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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.

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Mots-clés : Niemann-Pick type C, Cholestérol, Sphingolipides

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