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

Wraith, James E.; Baumgartner, Matthias R.; Bembi, Bruno; Covanis, Athanasios; Levade, Thierry; Mengel, Eugen; Pineda, Merce; Sedel, Frederic; Topcu, Meral and Vanier, Marie T., et al. (2009) In Molecular Genetics and Metabolism 98(1-2). p.152-165
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... (More)
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. (C) 2009 Elsevier Inc. All rights reserved. (Less)
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publication status
published
subject
keywords
Guidelines, Treatment, Screening, Niemann-Pick disease type C, Diagnosis, Monitoring
in
Molecular Genetics and Metabolism
volume
98
issue
1-2
pages
152 - 165
publisher
Elsevier
external identifiers
  • wos:000268942600632
  • scopus:67849098806
ISSN
1096-7192
DOI
10.1016/j.ymgme.2009.06.008
language
English
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yes
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b879f4f2-8542-4034-8cde-0ed53cc02588 (old id 1477191)
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2009-09-23 12:45:09
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2017-11-26 03:17:37
@misc{b879f4f2-8542-4034-8cde-0ed53cc02588,
  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. (C) 2009 Elsevier Inc. All rights reserved.},
  author       = {Wraith, James E. and Baumgartner, Matthias R. and Bembi, Bruno and Covanis, Athanasios and Levade, Thierry and Mengel, Eugen and Pineda, Merce and Sedel, Frederic and Topcu, Meral and Vanier, Marie T. and Widner, Håkan and Wijburg, Frits A. and Patterson, Marc C.},
  issn         = {1096-7192},
  keyword      = {Guidelines,Treatment,Screening,Niemann-Pick disease type C,Diagnosis,Monitoring},
  language     = {eng},
  number       = {1-2},
  pages        = {152--165},
  publisher    = {Elsevier},
  series       = {Molecular Genetics and Metabolism},
  title        = {Recommendations on the diagnosis and management of Niemann-Pick disease type C},
  url          = {http://dx.doi.org/10.1016/j.ymgme.2009.06.008},
  volume       = {98},
  year         = {2009},
}