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

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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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 (2020). https://doi.org/10.1007/s12311-020-01156-0

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Keywords

  • Niemann-Pick type C
  • Non-motor symptoms
  • Sleep
  • Dementia
  • Psychosis
  • Autonomic findings
  • Epilepsy
  • Systemic features