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