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Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease

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Abstract

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC’s clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.

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This study was not supported by any specific grant from funding agencies in the public, commercial, or non-profit sectors.

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Authors and Affiliations

  1. Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil

    Deborah Moreira Rangel, Manoel Alves Sobreira-Neto & Pedro Braga-Neto

  2. Neurology Service, Hospital Geral de Fortaleza, Fortaleza, Brazil

    Deborah Moreira Rangel & Pedro Braga-Neto

  3. Division of Psychiatry, Universidade de Fortaleza, Fortaleza, Brazil

    Matias Carvalho Aguiar Melo

  4. Psychiatry Service, Hospital de Saúde Mental Professor Frota Pinto, Fortaleza, Brazil

    Matias Carvalho Aguiar Melo

  5. Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    José Luiz Pedroso & Orlando Graziani Povoas Barsottini

  6. Center of Health Sciences, Universidade Estadual do Ceará, Fortaleza, Brazil

    Pedro Braga-Neto

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  1. Deborah Moreira Rangel
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Conception and design of the work: DMR and PBN. SSOC: literature search; acquisition, analysis, or interpretation of data for the work: DMR, MASN, and PBN. Drafting the work: DMR, JLP, MASN, and PBN. All authors were involved in critical revision of the manuscript for important intellectual content.

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Correspondence to Pedro Braga-Neto.

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Rangel, D.M., Melo, M.C.A., Pedroso, J.L. et al. Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease. Cerebellum 19, 722–738 (2020). https://doi.org/10.1007/s12311-020-01156-0

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