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Niemann-Pick Disease Type C

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Neurometabolic Hereditary Diseases of Adults

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.

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Authors and Affiliations

  1. Department of Neurology, Reference Center for Lysosomal Diseases, Pitié Salpêtrière Hospital, Paris, France

    Yann Nadjar M.D., Ph.D.

  2. Laboratoire Gillet-Mérieux, Centre de Biologie et Pathologie Est, Groupe Hospitalier Lyon-Est, Bron, France

    Marie T. Vanier M.D., Ph.D.

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  1. Yann Nadjar M.D., Ph.D.
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Correspondence to Yann Nadjar M.D., Ph.D. .

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  1. Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy

    Alessandro P. Burlina

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Nadjar, Y., Vanier, M.T. (2018). Niemann-Pick Disease Type C. In: Burlina, A. (eds) Neurometabolic Hereditary Diseases of Adults. Springer, Cham. https://doi.org/10.1007/978-3-319-76148-0_6

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