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

[1]  R. Brady,et al.  Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. , 1991, Biochimica et biophysica acta.

[2]  M. Vanier Niemann-Pick disease type C , 2010, Orphanet journal of rare diseases.

[3]  M. Shen,et al.  Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[4]  S. Lehéricy,et al.  24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. , 2009, Molecular genetics and metabolism.

[5]  W. Bremner,et al.  Miglustat has no apparent effect on spermatogenesis in normal men. , 2007, Human reproduction.

[6]  G. Pastores,et al.  An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. , 2005, Clinical therapeutics.

[7]  T. Kitagawa,et al.  Bone marrow transplantation for Niemann-Pick mice , 1983, Journal of Inherited Metabolic Disease.

[8]  S. Walkley,et al.  Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease. , 2009, The American journal of pathology.

[9]  J. M. Aerts,et al.  The Human Chitotriosidase Gene , 1998, The Journal of Biological Chemistry.

[10]  G. Mieli-Vergani,et al.  Fetal ascites: an unusual presentation of Niemann-Pick disease type C. , 1989, Archives of disease in childhood.

[11]  A. Chabás,et al.  [Type C Niemann-Pick disease]. , 1991, Sangre.

[12]  R. Brady,et al.  Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients , 1988, Clinical genetics.

[13]  E. Nanba,et al.  Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. , 2002, Annals of neurology.

[14]  S. Õunpuu,et al.  Motion analysis of a child with Niemann–Pick disease type C treated with miglustat , 2008, Movement disorders : official journal of the Movement Disorder Society.

[15]  Jean Büttner-Ennever,et al.  Niemann‐Pick Type C Disease in Two Affected Sisters: Ocular Motor Recordings and Brain‐Stem Neuropathology , 2005, Annals of the New York Academy of Sciences.

[16]  Theodore P Trouard,et al.  Diffusion tensor imaging in Niemann-Pick Type C disease. , 2005, Pediatric neurology.

[17]  F. Maxfield,et al.  Lipid and cholesterol trafficking in NPC. , 2004, Biochimica et biophysica acta.

[18]  R. Brady,et al.  Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. , 1988, The Journal of biological chemistry.

[19]  D. Cogan,et al.  Clinical spectrum of Niemann‐Pick disease type C , 1989, Neurology.

[20]  G. Trendelenburg,et al.  Niemann–Pick type C disease in a 68-year-old patient , 2006, Journal of Neurology, Neurosurgery & Psychiatry.

[21]  S. Ikehara,et al.  ALLOGENEIC BONE MARROW‐PLUS‐LIVER TRANSPLANTATION IN THE C57BL/KsJ SPM/SPM MOUSE, AN ANIMAL MODEL OF NIEMANN‐PICK DISEASE , 1990, Transplantation.

[22]  R. A. Wevers,et al.  The frequency of lysosomal storage diseases in The Netherlands , 1999, Human Genetics.

[23]  A. Galione,et al.  Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium , 2008, Nature Medicine.

[24]  J. Alroy,et al.  Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. , 1990, Pediatric neurology.

[25]  R. Schiffmann,et al.  The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type C , 1993, Neurology.

[26]  D. Royall,et al.  The FAB: A frontal assessment battery at bedside , 2001, Neurology.

[27]  R. Dwek,et al.  Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders. , 2000, Chemical reviews.

[28]  J. Engel,et al.  Gelastic cataplexy in niemann‐pick disease group C and related variants without generalized sphingomyelinase deficiency , 1983, Annals of neurology.

[29]  S. Harris,et al.  Niemann–Pick disease type C in adults , 2002, Journal of Inherited Metabolic Disease.

[30]  R. Rousson,et al.  Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. , 1994, Biochimica et biophysica acta.

[31]  R. Dwek,et al.  Accumulation of Glycosphingolipids in Niemann-Pick C Disease Disrupts Endosomal Transport* , 2004, Journal of Biological Chemistry.

[32]  H. Galjaard,et al.  Elevated plasma chitotriosidase activity in various lysosomal storage disorders , 1995, Journal of Inherited Metabolic Disease.

[33]  S. Mellon,et al.  Niemann–Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone , 2004, Nature Medicine.

[34]  W. Schlote,et al.  Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family , 1978, Acta Neuropathologica.

[35]  Y. Ioannou,et al.  Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes Published, JLR Papers in Press, November 4, 2002. DOI 10.1194/jlr.M200230-JLR200 , 2003, Journal of Lipid Research.

[36]  R. Dwek,et al.  Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis , 2000, The Lancet.

[37]  H. Vankova Mini Mental State , 2010 .

[38]  F. Beemer,et al.  Prenatal diagnosis of Niemann-Pick disease type C. , 1992, Clinica chimica acta; international journal of clinical chemistry.

[39]  J. E. Wraith,et al.  Isolated splenomegaly as the presenting feature of Niemann–Pick disease type C , 2001, Archives of disease in childhood.

[40]  B. Robaire Advancing towards a male contraceptive: a novel approach from an unexpected direction. , 2003, Trends in pharmacological sciences.

[41]  H. Weiner,et al.  Intensive immunosuppression in progressive multiple sclerosis. A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH. , 1983, The New England journal of medicine.

[42]  R. Schiffmann Niemann-Pick disease type C. From bench to bedside. , 1996, JAMA.

[43]  G. Francis,et al.  The National Niemann–Pick C1 disease database: Report of clinical features and health problems , 2007, American journal of medical genetics. Part A.

[44]  S. Sherlock,et al.  Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. , 1993, The Journal of pediatrics.

[45]  W. Hwu,et al.  Niemann–Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation , 1999, Bone Marrow Transplantation.

[46]  M. Pineda,et al.  Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale , 2006, Journal of the Neurological Sciences.

[47]  S. van Weely,et al.  Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. , 2007, Blood.

[48]  J. Repa,et al.  Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1−/− mouse , 2009, Proceedings of the National Academy of Sciences.

[49]  R. Brady,et al.  A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. , 1980, Biochimica et biophysica acta.

[50]  T. Starzl,et al.  Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation. , 1986, Pediatrics.

[51]  H. Ninomiya,et al.  [Niemann-Pick disease type C]. , 2001, Nihon rinsho. Japanese journal of clinical medicine.

[52]  M. Vanier Lipid Changes in Niemann-Pick Disease Type C Brain: Personal Experience and Review of the Literature , 1999, Neurochemical Research.

[53]  N. Baumann,et al.  The adult form of Niemann-Pick disease type C. , 2006, Brain : a journal of neurology.

[54]  S. Sturley,et al.  Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport. , 2004, Biochimica et biophysica acta.

[55]  R. Rousson,et al.  Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. , 1991, Biochimica et biophysica acta.

[56]  R. Rousson,et al.  Biochemical studies in Niemann‐Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease , 1985, Clinical genetics.

[57]  M. Dobson,et al.  The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. , 1998, American journal of human genetics.

[58]  A. Noguchi,et al.  Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. , 2006, The Tohoku journal of experimental medicine.

[59]  I. Gottlob,et al.  Augenbewegungsstörungen als Kennzeichen für die Diagnose des Morbus Niemann-Pick Typ C bei zwei Schwestern , 1999 .

[60]  E. Winsor,et al.  Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). , 1978, American journal of human genetics.

[61]  R. Brady,et al.  Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts , 1987, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[62]  R. Yu,et al.  Differential Effects of Glycolipid Biosynthesis Inhibitors on Ceramide‐Induced Cell Death in Neuroblastoma Cells , 1999, Journal of neurochemistry.

[63]  Helen J. Cassaday,et al.  A Open-Label , 2021 .

[64]  K. G. Coleman,et al.  Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. , 1997, Science.

[65]  R. Wattiaux,et al.  Identification of HE1 as the second gene of Niemann-Pick C disease. , 2000, Science.

[66]  F. Krummenauer,et al.  Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C , 2006, Journal of Inherited Metabolic Disease.

[67]  M. Patterson,et al.  Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study , 2007, The Lancet Neurology.

[68]  K. Higaki,et al.  Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. , 2001, American journal of human genetics.

[69]  Christine M Howison,et al.  Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann‐Pick C mice , 2005, Journal of neuroscience research.

[70]  R. Ouvrier,et al.  The Value of the Mini-Mental State Examination in Childhood: A Preliminary Study , 1993, Journal of child neurology.

[71]  R. Giugliani,et al.  Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. , 2004, Clinical biochemistry.

[72]  G. Millat,et al.  Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. , 2005, Molecular genetics and metabolism.

[73]  P. Meikle,et al.  Prevalence of lysosomal storage disorders. , 1999, JAMA.

[74]  M. Macek,et al.  Liver findings in Niemann-Pic disease type C , 1984, The Histochemical Journal.

[75]  S. Walkley,et al.  Neurons in Niemann‐Pick Disease Type C Accumulate Gangliosides as Well as Unesterified Cholesterol and Undergo Dendritic and Axonal Alterations , 2001, Journal of neuropathology and experimental neurology.

[76]  S. Walkley,et al.  Consequences of NPC1 and NPC2 loss of function in mammalian neurons. , 2004, Biochimica et biophysica acta.

[77]  R. Brady,et al.  Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver. , 1992, Biochimica et biophysica acta.

[78]  H. Singer,et al.  Cataplexy in variant forms of Niemann‐Pick disease , 1982, Annals of neurology.

[79]  M. Patterson,et al.  154. Disease stability in patients with Niemann–Pick disease type C treated with miglustat , 2009 .

[80]  M. Vanier Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. , 1983, Biochimica et biophysica acta.

[81]  R. Schiffmann,et al.  Glucosylceramide and Glucosylsphingosine Modulate Calcium Mobilization from Brain Microsomes via Different Mechanisms* , 2003, Journal of Biological Chemistry.

[82]  R. Rousson,et al.  Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk. , 1992, American journal of human genetics.

[83]  G. Besley,et al.  The natural history of Niemann–Pick disease type C in the UK , 2007, Journal of Inherited Metabolic Disease.

[84]  T. Koeda,et al.  Type C Niemann-Pick disease Detection and quantification of cholesterol-accumulating cells in bone marrow , 1993, Brain and Development.

[85]  M. Vanier Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. , 1997, Wiener klinische Wochenschrift.

[86]  B. Ghetti,et al.  Neurofibrillary tangles in Niemann-Pick disease type C , 2004, Acta Neuropathologica.

[87]  S. Folstein,et al.  "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. , 1975, Journal of psychiatric research.

[88]  S. Walkley,et al.  Critical role for glycosphingolipids in Niemann-Pick disease type C , 2001, Current Biology.

[89]  A. Gropman Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. , 2005, Molecular genetics and metabolism.

[90]  B. Neville,et al.  A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. , 1973, Brain : a journal of neurology.

[91]  C R Scriver,et al.  Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. , 1994, Pediatric neurology.

[92]  O. Amaral,et al.  Prevalence of lysosomal storage diseases in Portugal , 2004, European Journal of Human Genetics.

[93]  I. Gottlob,et al.  [Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C]. , 1999, Klinische Monatsblatter fur Augenheilkunde.

[94]  S. Mellon,et al.  Endogenous and synthetic neurosteroids in treatment of Niemann–Pick Type C disease , 2008, Brain Research Reviews.

[95]  Y. Agid,et al.  Movement disorders and inborn errors of metabolism in adults: A diagnostic approach , 2008, Journal of Inherited Metabolic Disease.

[96]  W. Balch,et al.  NPC1/NPC2 function as a tag team duo to mobilize cholesterol , 2008, Proceedings of the National Academy of Sciences.

[97]  E. Nanba,et al.  Niemann–Pick type C disease: Accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein E ε4 homozygosity , 2002, Annals of neurology.

[98]  R. Schiffmann,et al.  Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease , 1998, Journal of neurology, neurosurgery, and psychiatry.

[99]  M. Patterson,et al.  PART 16 : LYSOSOMAL DISORDERS Chapter 145 : Niemann-Pick Disease Type C : A Lipid Trafficking Disorder , 2007 .

[100]  V. Puri,et al.  Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. , 2002, The Journal of clinical investigation.

[101]  M. Vanier Prenatal diagnosis of Niemann–Pick diseases types A, B and C , 2002, Prenatal diagnosis.

[102]  M. Patterson,et al.  Therapy of Niemann-Pick disease, type C. , 2004, Biochimica et biophysica acta.

[103]  R. Dwek,et al.  N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. , 1994, The Journal of biological chemistry.

[104]  G. Passi,et al.  Assessment of a modified Mini-Mental Scale for cognitive functions in children. , 2005, Indian pediatrics.

[105]  M. Harwood,et al.  Comparison of the main sequence of reflexive saccades and the quick phases of optokinetic nystagmus , 2001, The British journal of ophthalmology.

[106]  R. Rousson,et al.  Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. , 1991, Developmental neuroscience.

[107]  R. Dwek,et al.  Reversible infertility in male mice after oral administration of alkylated imino sugars: A nonhormonal approach to male contraception , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[108]  V. Meiner,et al.  The clinical spectrum of fetal Niemann–Pick type C , 2009, American journal of medical genetics. Part A.

[109]  O. Morand,et al.  The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat , 2007, Xenobiotica; the fate of foreign compounds in biological systems.