Document Detail

Recommendations on the diagnosis and management of Niemann-Pick disease type C.
MedLine Citation:
PMID:  19647672     Owner:  NLM     Status:  MEDLINE    
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.
; 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
Publication Detail:
Type:  Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't     Date:  2009-06-14
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  98     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:    2009 Sep-Oct
Date Detail:
Created Date:  2009-08-03     Completed Date:  2009-11-05     Revised Date:  2009-12-22    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  152-65     Citation Subset:  IM    
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MeSH Terms
Child, Preschool
Infant, Newborn
Mass Screening
Middle Aged
Niemann-Pick Disease, Type C / diagnosis*,  genetics,  therapy*
Young Adult
Comment In:
Mol Genet Metab. 2010 Jan;99(1):98   [PMID:  19822450 ]

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