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The Neuronal Ceroid Lipofuscinoses

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Abstract

Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited neurodegenerative diseases characterized by the lysosomal accumulation of autofluorescent material, revealed upon electron microscopy of neurons and many other cell types. The autofluorescent storage material is most commonly represented by subunit c of mitochondrial ATP synthase and sphingolipid activator proteins A and C. Nearly all of the NCL diseases can be subdivided in different clinical forms by age of onset and severity due to residual activity of the corresponding enzyme.

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Acknowledgments

We thank Carla E Hollak for her help in the preparation of the paper.

Author information

Authors and Affiliations

  1. Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy

    Maurizio Scarpa & Cinzia Maria Bellettato

  2. Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy

    Annalisa Sechi

Authors
  1. Maurizio Scarpa
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  2. Cinzia Maria Bellettato
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  3. Annalisa Sechi
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Corresponding author

Correspondence to Maurizio Scarpa .

Editor information

Editors and Affiliations

  1. Division of Metabolism, University Children’s Hospital, Zürich, Switzerland

    Nenad Blau

  2. Division of Metabolic Disease, Department of Pediatric Subspecialties, Bambino Gesù Children’s Hospital-IRCCS, Rome, Italy

    Carlo Dionisi Vici

  3. Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA

    Carlos R. Ferreira

  4. Department of Inborn Errors of Metabolism and Newborn Screening, CHU Lyon, Centre de Biologie et de Pathologie Est, Bron Cedex, France

    Christine Vianey-Saban

  5. Departments of Pediatrics and Human Genetics, Emma Children’s Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands

    Clara D. M. van Karnebeek

Ethics declarations

This work was generated within the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), co-funded by the European Union within the framework of the Third Health Programme ERN-2016 - Framework Partnership Agreement 2017–2021, Project ID No. 739543.

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Scarpa, M., Bellettato, C.M., Sechi, A. (2022). The Neuronal Ceroid Lipofuscinoses. In: Blau, N., Dionisi Vici, C., Ferreira, C.R., Vianey-Saban, C., van Karnebeek, C.D.M. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-67727-5_61

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  • DOI: https://doi.org/10.1007/978-3-030-67727-5_61

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-67726-8

  • Online ISBN: 978-3-030-67727-5

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