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Niemann-Pick Disease Type C

  • Yann Nadjar
  • Marie T. Vanier
Chapter

Abstract

NP-C disease is now increasingly recognized in adult patients. However, clinical presentation, at least initially, may be heterogeneous and non specific, leading to a long diagnostic delay. Recently developed high performance plasmatic diagnostic biomarkers could improve NP-C detection, if used at a large scale in undiagnosed young patients with cerebellar ataxia / generalized dystonia, and/or cognitive decline, and/or atypical psychosis. Miglustat, a drug acting as a substrate reduction therapy, is able to stabilize some patients, especially if they have a minor disability. Other drugs under investigation might also be used in NP-C disease, alone or in combination, in the near future.

Keywords

Lysosomal disease Niemann-Pick type C Schizophrenia Ataxia Dystonia Cognitive decline Hepatomegaly Splenomegaly Miglustat 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Neurology, Reference Center for Lysosomal DiseasesPitié Salpêtrière HospitalParisFrance
  2. 2.Laboratoire Gillet-Mérieux, Centre de Biologie et Pathologie EstGroupe Hospitalier Lyon-EstBronFrance

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