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
Y1 - 2009
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. (C) 2009 Elsevier Inc. All rights reserved
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. (C) 2009 Elsevier Inc. All rights reserved
U2 - https://doi.org/10.1016/j.ymgme.2009.06.008
DO - https://doi.org/10.1016/j.ymgme.2009.06.008
M3 - Editorial
C2 - 19647672
SN - 1096-7192
VL - 98
SP - 152
EP - 165
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1-2
ER -