Recommendations on the diagnosis and management of Niemann-Pick disease type C

James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Mercè Pineda, Frédéric Sedel, Meral Topçu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Patterson

Research output: Contribution to journalComment/debate

173 Scopus citations

Abstract

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. It is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient support is hampered by the absence of national or international clinical management guidelines. In this paper, we seek to address this important gap in the current literature. An expert panel was convened in Paris, France in January 2009 to discuss best care practices for NP-C. This commentary reviews current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting.

Original languageEnglish (US)
Pages (from-to)152-165
Number of pages14
JournalMolecular genetics and metabolism
Volume98
Issue number1-2
DOIs
StatePublished - Oct 2009

Keywords

  • Diagnosis
  • Guidelines
  • Monitoring
  • Niemann-Pick disease type C
  • Screening
  • Treatment

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Wraith, J. E., Baumgartner, M. R., Bembi, B., Covanis, A., Levade, T., Mengel, E., Pineda, M., Sedel, F., Topçu, M., Vanier, M. T., Widner, H., Wijburg, F. A., & Patterson, M. C. (2009). Recommendations on the diagnosis and management of Niemann-Pick disease type C. Molecular genetics and metabolism, 98(1-2), 152-165. https://doi.org/10.1016/j.ymgme.2009.06.008