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RESEARCH PRODUCT

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

Frédéric SedelMarie T. VanierBruno BembiEugen MengelFrits A. WijburgThierry LevadeMercè PinedaJames E. WraithHåkan WidnerMarc C. PattersonMeral TopçuMatthias R. BaumgartnerAthanasios Covanis

subject

Adultmedicine.medical_specialtyNeurology1303 BiochemistryAdolescentEndocrinology Diabetes and Metabolism610 Medicine & healthDiseaseBiochemistry03 medical and health sciencesDysarthriaYoung Adult0302 clinical medicineEndocrinology1311 GeneticsGeneticsLysosomal storage diseasemedicine1312 Molecular BiologyDementiaHumansMass ScreeningIntensive care medicineChildMolecular BiologyMass screening030304 developmental biology0303 health sciencesNiemann–Pick disease type Cbusiness.industryInfant NewbornInfantNiemann-Pick Disease Type CMiddle Agedmedicine.disease3. Good health1310 Endocrinology2712 Endocrinology Diabetes and Metabolism10036 Medical ClinicChild PreschoolPhysical therapyGait Ataxiamedicine.symptombusiness030217 neurology & neurosurgery

description

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

yearjournalcountryeditionlanguage
2009-10-01
10.1016/j.ymgme.2009.06.008https://pure.amc.nl/en/publications/recommendations-on-the-diagnosis-and-management-of-niemannpick-disease-type-c(ef263953-8a25-42e2-8664-b1cda79144d6).html