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.
authors: James E
authors: JE
authors: Wraith
authors: Matthias R
authors: MR
authors: Baumgartner
authors: Bruno
authors: B
authors: Bembi
authors: Athanasios
authors: A
authors: Covanis
authors: Thierry
authors: T
authors: Levade
authors: Eugen
authors: E
authors: Mengel
authors: Mercè
authors: M
authors: Pineda
authors: Frédéric
authors: F
authors: Sedel
authors: Meral
authors: M
authors: Topçu
authors: Marie T
authors: MT
authors: Vanier
authors: Hakan
authors: H
authors: Widner
authors: Frits A
authors: FA
authors: Wijburg
authors: Marc C
authors: MC
authors: Patterson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008403:Mass Screening; D008875:Middle Aged; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D055815:Young Adult