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 journalArticle

165 Citations (Scopus)

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

Fingerprint

Type C Niemann-Pick Disease
Gait Ataxia
Lysosomal Storage Diseases
Dysarthria
Glycosphingolipids
Paris
Ataxia
Deglutition Disorders
Practice Guidelines
France
Dementia
Consensus
Cholesterol
Guidelines
Lipids
Deterioration
Brain
Therapeutics
Tissue

Keywords

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

ASJC Scopus subject areas

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

Cite this

Wraith, J. E., Baumgartner, M. R., Bembi, B., Covanis, A., Levade, T., Mengel, E., ... 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

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, Mercè; Sedel, Frédéric; Topçu, Meral; Vanier, Marie T.; Widner, Hakan; Wijburg, Frits A.; Patterson, Marc C.

In: Molecular Genetics and Metabolism, Vol. 98, No. 1-2, 10.2009, p. 152-165.

Research output: Contribution to journalArticle

Wraith, JE, Baumgartner, MR, Bembi, B, Covanis, A, Levade, T, Mengel, E, Pineda, M, Sedel, F, Topçu, M, Vanier, MT, Widner, H, Wijburg, FA & Patterson, MC 2009, 'Recommendations on the diagnosis and management of Niemann-Pick disease type C', Molecular Genetics and Metabolism, vol. 98, no. 1-2, pp. 152-165. https://doi.org/10.1016/j.ymgme.2009.06.008
Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Molecular Genetics and Metabolism. 2009 Oct;98(1-2):152-165. https://doi.org/10.1016/j.ymgme.2009.06.008
Wraith, James E. ; Baumgartner, Matthias R. ; Bembi, Bruno ; Covanis, Athanasios ; Levade, Thierry ; Mengel, Eugen ; Pineda, Mercè ; Sedel, Frédéric ; Topçu, Meral ; Vanier, Marie T. ; Widner, Hakan ; Wijburg, Frits A. ; Patterson, Marc C. / Recommendations on the diagnosis and management of Niemann-Pick disease type C. In: Molecular Genetics and Metabolism. 2009 ; Vol. 98, No. 1-2. pp. 152-165.
@article{ab720e332ebb41d08b5852d86c67951b,
title = "Recommendations on the diagnosis and management of Niemann-Pick disease type C",
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.",
keywords = "Diagnosis, Guidelines, Monitoring, Niemann-Pick disease type C, Screening, Treatment",
author = "Wraith, {James E.} and Baumgartner, {Matthias R.} and Bruno Bembi and Athanasios Covanis and Thierry Levade and Eugen Mengel and Merc{\`e} Pineda and Fr{\'e}d{\'e}ric Sedel and Meral Top{\cc}u and Vanier, {Marie T.} and Hakan Widner and Wijburg, {Frits A.} and Patterson, {Marc C.}",
year = "2009",
month = "10",
doi = "10.1016/j.ymgme.2009.06.008",
language = "English (US)",
volume = "98",
pages = "152--165",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

TY - JOUR

T1 - Recommendations on the diagnosis and management of Niemann-Pick disease type C

AU - Wraith, James E.

AU - Baumgartner, Matthias R.

AU - Bembi, Bruno

AU - Covanis, Athanasios

AU - Levade, Thierry

AU - Mengel, Eugen

AU - Pineda, Mercè

AU - Sedel, Frédéric

AU - Topçu, Meral

AU - Vanier, Marie T.

AU - Widner, Hakan

AU - Wijburg, Frits A.

AU - Patterson, Marc C.

PY - 2009/10

Y1 - 2009/10

N2 - 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.

AB - 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.

KW - Diagnosis

KW - Guidelines

KW - Monitoring

KW - Niemann-Pick disease type C

KW - Screening

KW - Treatment

UR - http://www.scopus.com/inward/record.url?scp=67849098806&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67849098806&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2009.06.008

DO - 10.1016/j.ymgme.2009.06.008

M3 - Article

C2 - 19647672

AN - SCOPUS:67849098806

VL - 98

SP - 152

EP - 165

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1-2

ER -