A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C

Neurologist

Volumn 9, Issue 6, 2003, Pages 301-310

  Patterson, Marc C ^a,b  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b NEUROLOGICAL INSTITUTE   (United States)

Author keywords

Dementia; Lipid storage; Psychosis; Vertical gaze palsy

Indexed keywords

ANTICONVULSIVE AGENT; BIOCHEMICAL MARKER; CARBOHYDRATE DERIVATIVE; CHOLESTEROL; CLOMIPRAMINE; GANGLIOSIDE GM1; GANGLIOSIDE GM2; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; GLYCOSPHINGOLIPID; HYPOCHOLESTEROLEMIC AGENT; LACTOSYLCERAMIDE; MIGLUSTAT; MOLECULAR MARKER; N BUTYLDEOXYGALACTONOJIRIMYCIN; NPC1 PROTEIN; NPC2 PROTEIN; PROTEIN; PROTRIPTYLINE; SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG;

ATAXIA; BONE MARROW TRANSPLANTATION; CATAPLEXY; CELL INCLUSION; CHROMOSOME 18; CLINICAL TRIAL; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; DEVELOPMENTAL DISORDER; DIARRHEA; DYSARTHRIA; DYSTONIA; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; FIBROBLAST; FOAM CELL; GAZE PARALYSIS; GENE MAPPING; GENE MUTATION; GENOTYPE; HEPATOSPLENOMEGALY; HISTIOCYTE; HUMAN; LIPIDOSIS; LIPOGENESIS; LIVER BIOPSY; LIVER TRANSPLANTATION; LOW FAT DIET; MICROSCOPY; MUSCLE HYPOTONIA; NEURITIS; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSTRUCTIVE JAUNDICE; PHYSIOTHERAPY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN MOTIF; PSYCHOSIS; REVIEW; SEIZURE; SIDE EFFECT; SPHEROID CELL; SPLENOMEGALY; WEIGHT REDUCTION;

HUMANS; NIEMANN-PICK DISEASES; PHENOTYPE;

EID: 0344875214     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.nrl.0000094627.78754.5b     Document Type: Review

References (123)

1. Churchill WS. Churchill, Winston (later Sir Winston). In: Rees N, ed. Cassell Companion to Quotations. London: Cassell; 1997:640
2. Patterson MC, Vanier MT, Suzuki K, et al. Niemann-Pick disease, type C: A lipid trafficking disorder. In: Beaudet AL, Sly WS, Valle D, et al, eds. The Metabolic and Molecular Bases of Inherited Disease, Vol. 3, 8th ed. New York: McGraw-Hill, 2001:3611-3633.
3. Winsor EJ, Welch JP. Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). Am J Hum Genet. 1978;30:530-538.
4. Crocker AC, Farber S. Niemann-Pick Disease: a review of eighteen patients. Medicine. 1958;37:1-95.
5. Niemann A. Ein unbekanntes Krankheitsbild. Jahrb Kinderheilkd. 1914;79:1.
6. Pick L. Uber die lipoidzellige splenohepatosplenomegalie typus Niemann-Pick als stoffwechselerkrankung. Med Klin. 1927;23:1483.
7. Klenk E. Uber die natur der phsophatide der milz bei Niemann-Pickschen Krankheit. Z Physiol Chem. 1934;229:151.
8. Crocker AC. The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J. Neurosci. 1961;7:69-80.
9. Greer WL, Riddell DC, Gillan TL, et al. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC 1. Am J Hum Genet. 1998;63:52-54.
10. Norman RM, Forrester RM, Tingey AH. The juvenile form of Niemann-Pick disease. Arch Dis Child. 1967;42:91-96.
11. Elfenbein IB. Dystonic juvenile idiocy without amaurosis, a new syndrome. Light and microscopic observations of cerebrum. Johns Hopkins Med J. 1968;123:205-201.
12. De Leon GA, Kaback MM, Elfenbein IB, et al. Juvenile dystonic lipidosis. Johns Hopkins Med J. 1969;125:62-77.
13. Dawson G, Matalon R, Stein AO. Lactosylceramidosis: lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts. J Pediatr. 1971;79:423-429.
14. Gilbert EF, Callahan J, Viseskul C, et al. Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies. Eur J Pediatr. 1981;136:263-274.
15. Elleder M, Jirasek A, Smid F, et al. Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis. Virchows Arch A Pathol Anat Histopathol. 1984;402:307-317.
16. Neville BG, Lake BD, Stephens R, et al. A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. Brain. 1973;96:97-120.
17. Cogan DG, Chu FC, Reingold D, et al. Ocular motor signs in some metabolic diseases. Arch Ophthalmol. 1981;99:1802-1808.
18. Brady RO, Kanfer JN, Mock MB, et al. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci USA. 1966;55:366-369.
19. Schneider PB, Kennedy EP. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J Lipid Res. 1967;8:202-209.
20. Elleder M, Jirasek A. Niemann-Pick disease. Report on a symposium held in Hlava's Institute of Pathology, Charles University, Prague September 2-3, 1982. Acta Univ Carol [Med]. 1983;29:259-267.
21. Pentchev PG, Gal AE, Booth AD, et al. A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980;619:669-679.
22. Pentchev PG, Boothe AD, Kruth HS, et al. A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J Biol Chem. 1984;259:5784-5791.
23. Pentchev PG, Comly ME, Kruth HS, et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA. 1985;82:8247-8251.
24. Pentchev PG, Comly ME, Kruth HS, et al. The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J Biol Chem. 1986;261:2772-2777.
25. Tanaka J, Nakamura H, Miyawaki S. Cerebellar involvement in murine sphingomyelinosis: a new model of Niemann-Pick disease. J Neuropathol Exp Neurol. 1988;47:291-300.
26. Pentchev PG, Comly ME, Kruth HS, et al. Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. Faseb J. 1987;1:40-45.
27. Sokol J, Blanchette-Mackie J, Kruth HS, et al. Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem. 1988;263:3411-417.
28. Volpon L, Lancelin J. Solution NMR structures of the polyene macrolide antibiotic filipin III. FEBS Lett. 2000;478:137-140.
29. Carstea ED, Polymeropoulos MH, Parker CC, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci USA. 1993;90:2002-2004.
30. Steinberg SJ, Ward CP, Fensom AH. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet. 1994;31:317-320.
31. Vanier MT, Duthel S, Rodriguez-Lafrasse C, et al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet. 1996;58:118-125.
32. Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997;277:228-231.
33. Naureckiene S, Sleat DE, Lackland H, et al. Identification of HEI as the second gene of Niemann-Pick C disease. Science. 2000;290:2298-2301.
34. Choudhury A, Dominguez M, Puri V, et al. Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J Clin Invest. 2002;109:1541-1550.
35. Bergo MO, Young SG. Extra Rabs unsnarl a lipid traffic jam. Nat Med. 2002;8:662-664.
36. Maconochie IK, Chong S, Mieli-Vergani G, et al. Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch Dis Child. 1989;64:1391-1393.
37. Manning DJ, Price WI, Pearse RG. Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch Dis Child. 1990;65:335-336.
38. Ashkenazi A, Yarom R, Gutman A, et al. Niemann-Pick disease and giant cell transformation of the liver. Acta Paediatr Scand. 1971;60:285-294.
39. Guibaud P, Vanier MT, Malpuech G, et al. [Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases]. Pediatrie. 1979;34:103-114.
40. Jaeken J, Proesmans W, Eggermont E, et al. Niemann-Pick type C disease and early cholestasis in three brothers. Acta Paediatr Belg. 1980;33:43-46.
41. Vanier MT, Wenger DA, Comly ME, et al. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet. 1988;33:331-348.
42. Rutledge JC. Progressive neonatal liver failure due to type C Niemann-Pick disease. Pediatr Pathol. 1989;9:779-784.
43. Gonzalez de Dios J, Fernandez Tejada E, Diaz Fernandez MC, et al. [The current state of Niemann-Pick disease: evaluation of six cases]. An Esp Pediatr. 1990;32:143-148.
44. Kelly DA, Portmann B, Mowat AP, et al. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993;123:242-247.
45. Patterson MC, Pentchev PG. Diagnosis of Niemann-Pick disease type C. J Pediatr. 1994;124:655-656.
46. Kovesi TA, Lee J, Shuckett B, et al. Pulmonary infiltration in Niemann-Pick disease type C. J Inherit Metab Dis. 1996;19:792-793.
47. Schofer O, Mischo B, Puschel W, et al. Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group. Eur J Pediatr. 1998;157:45-49.
48. Wiedemann HR, Debuch H, Lennert K, et al. [An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form-a new type? Clinical, pathohistological, electron microscopic and biochemical studies]. Z Kinderheilkd. 1972;112:187-225.
49. Harzer K, Schlote W, Peiffer J, 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. Acta Neuropathol (Berl). 1978;43:97-104.
50. Hahn AF, Gilbert JJ, Kwarciak C, et al. Nerve biopsy findings in Niemann-Pick type II (NPC). Acta Neuropathol. 1994;87:149-154.
51. Coleman RJ, Robb SA, Lake BD, et al. The diverse neurological features of Niemann-Pick disease type C: a report of two cases. Mov Disord. 1988;3:295-299.
52. Rottach KG, von Maydell RD, Das VE, et al. Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease. Vision Res. 1997;37:3627-3638.
53. Shulman LM, David NJ, Weiner WJ. Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. Neurology. 1995;45:1739-1743.
54. Shulman LM, Lang AE, Jankovic J, et al. Case 1, 1995: psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction. Mov Disord. 1995;10:257-262.
55. Kandt RS, Emerson RG, Singer HS, et al. Cataplexy in variant forms of Niemann-Pick disease. Ann Neurol. 1982;12:284-288.
56. Philippart M, Engel J Jr., Zimmerman EG. Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency. Ann Neurol. 1983;14:492-493.
57. Miyake S, Inoue H, Ohtahara S, et al. [A case of Niemann-Pick disease type C with narcolepsy syndrome]. Rinsho Shinkeigaku. 1983;23:44-52.
58. Denoix C, Rodriguez-Lafrasse C, Vanier MT, et al. [Cataplexy revealing an atypical form of Niemann-Pick disease type C]. Arch Fr Pediatr. 1991;48:31-34.
59. Omarini LP, Frank-Burkhardt SE, Seemayer TA, et al. Niemann-Pick disease type C: nodular splenomegaly. Abdom Imaging. 1995;20:157-160.
60. Vanier MT, Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol. 1998;8:163-174.
61. Fensom AH, Grant AR, Steinberg SJ, et al. An adult with a non-neuronopathic form of Niemann-Pick C disease. J Inherit Metab Dis. 1999;22:84-86.
62. Vanier MT, Suzuki K. Niemann-Pick diseases. In: Vinken PJ, Bruyn GW, Moser HW, eds. Neurodystrophies and Neurolipidoses. Vol. 66 (22). Amsterdam: Elsevier Sciences, 1996:133.
63. Philippart M, Martin L, Martin JJ, et al. Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C). Arch Neurol. 1969;20:227-238.
64. Silverstein MN, Ellefson RD, Ahern EJ. The syndrome of the sea-blue histiocyte. N Engl J Med. 1970;282:1-4.
65. Oo TH, Aish LS, Hassoun H. Unusual presentations of lymphoma: Case 1. Sea-blue histiocytes in non-Hodgkin's lymphoma. J Clin Oncol. 2002;20:1942-1943.
66. Elleder M, Jirasek A, Vlk J. Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C. Virchows Arch A Pathol Anat Histopathol. 1983;401:35-43.
67. Pin I, Pradines S, Pincemaille O, et al. [A fatal respiratory form of type C Niemann-Pick disease]. Arch Fr Pediatr. 1990;47:373-375.
68. Elleder M, Jirasek A, Smid F, et al. Niemann-Pick disease type C. Study on the nature of the cerebral storage process. Acta Neuropathol. 1985;66:325-336.
69. Braak H, Braak E, Goebel HH. Isocortical pathology in type C Niemann-Pick disease. A combined Golgi- pigmentoarchitectonic study. J Neuropathol Exp Neurol. 1983;42:671-687.
70. March PA, Thrall MA, Brown DE, et al. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. Acta Neuropathol (Berl). 1997;94:164-172.
71. Goodman LA, Walkley SU. Elevated GM2 ganglioside is associated with dendritic proliferation in normal developing neocortex. Brain Res Dev Brain Res. 1996;93:162-171.
72. Walkley SU, Siegel DA, Dobrenis K, et al. GM2 ganglioside as a regulator of pyramidal neuron dendritogenesis. Ann NY Acad Sci. 1998;845:188-199.
73. Anzil AP, Blinzinger K, Mehraein P, et al. Niemann-Pick disease type C: case report with ultrastructural findings. Neuropadiatrie. 1973;4:207-225.
74. Hawkes R. Personal communication, 2001.
75. Sarna J, Miranda SR, Schuchman EH, et al. Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease. Eur J Neurosci. 2001;13:1873-1880.
76. Horoupian DS, Yang SS. Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis). Ann Neurol. 1978;4:404-411.
77. Hulette CM, Earl NL, Anthony DC, et al. Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly. Clin Neuropathol. 1992;11:293-297.
78. Auer IA, Schmidt ML, Lee VM, et al. Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuropathol. 1995;90:547-551.
79. Kidd M. An electronmicroscopical study of a case of atypical cerebral lipidosis. Acta Neuropathol (Berl). 1967;9:70-78.
80. Pellissier JF, Hassoun J, Gambarelli D, et al. [Niemann-Pick disease (Crocker's type C): ultrastructural study of a case (author's transl)]. Acta Neuropathol (Berl). 1976;34:65-76.
81. Vanier MT. Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res. 1999;24:481-489.
82. Walkley SU, Zervas M, Wiseman S. Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons. Cereb Cortex. 2000;10:1028-1037.
83. Siegel DA, Walkley SU. Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside. J Neurochem. 1994;62:1852-1862.
84. Puri V, Watanabe R, Dominguez M, et al. Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases. Nat Cell Biol. 1999;1:386-388.
85. Davies JP, Chen FW, Ioannou YA. Transmembrane molecular pump activity of Niemann-Pick C1 protein. Science. 2000;290:2295-2298.
86. Watari H, Blanchette-Mackie EJ, Dwyer NK, et al. Mutations in the leucine zipper motifand sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein. J Biol Chem. 1999;274:21861-2186.
87. Millat G, Marcais C, Tomasetto C, et al. Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet. 2001;68:1373-1385.
88. Millat G, Marcais C, Rafi MA, et al. Niemann-Pick Cl disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet. 1999;65:1321-1329.
89. Wenger DA, Barth G, Githens JH. Nine cases of sphingomyelin lipidosis, a new variant in Spanish- American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. Am J Dis Child. 1977;131:955-961.
90. Greer WL, Riddell DC, Byers DM, et al. Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C. Am J Hum Genet. 1997;61:139-142.
91. Falk T, Garver WS, Erickson RP, et al. Expression of Niemann-Pick type C transcript in rodent cerebellum in vivo and in vitro. Brain Res. 1999;839:49-57.
92. Prasad A, Fischer WA, Maue RA, et al. Regional and developmental expression of the Npc1 mRNA in the mouse brain. J Neurochem. 2000;75:1250-1257.
93. Watari H, Blanchette-Mackie EJ, Dwyer NK, et al. NPC1-containing compartment of human granulosa-lutein cells: a role in the intracellular trafficking of cholesterol supporting steroidogenesis. Exp Cell Res. 2000;255:56-66.
94. Watari H, Blanchette-Mackie EJ, Dwyer NK, et al. Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop. Exp Cell Res. 2000;259:247-256.
95. Zhang M, Dwyer NK, Love DC, et al. Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc Natl Acad Sci USA. 2001;98:4466-4471.
96. Ko DC, Gordon MD, Jin JY, et al. Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events. Mol Biol Cell. 2001;12:601-614.
97. Millard EE, Srivastava K, Traub LM, et al. Niemann-pick type C1 (NPC1) overexpression alters cellular cholesterol homeostasis. J Biol Chem. 2000;275:38445-38451.
98. Zhang M, Dwyer NK, Neufeld EB, et al. Sterol-modulated glycolipid sorting occurs in Niemann-Pick Cl late endosomes. J Biol Chem. 2001;276:3417-425.
99. Kuwabara PE, Labouesse M. The sterol-sensing domain: multiple families, a unique role? Trends Genet. 2002;18:193-201.
100. Okamura N, Kiuchi S, Tamba M, et al. A porcine homolog of the major secretory protein of human epididymis, HEI, specifically binds cholesterol. Biochim Biophys Acta. 1999;1438:377-387.
101. Martinez P, Morros A. Membrane lipid dynamics during human sperm capacitation. Front Biosci. 1996;1:103-117.
102. Simons K, Gruenberg J. Jamming the endosomal system: lipid rafts and lysosomal storage diseases. Trends Cell Biol. 2000;10:459-462.
103. Vanier MT. Personal communication, 2002.
104. Brady RO, Patterson MC. Lipid Storage Diseases. In: Berg BO, ed. Principles of Child Neurology New York: McGraw-Hill, 1996:1091-1114.
105. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta. 1991;1096:328-337.
106. Vanier MT. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. Wien Klin Wochenschr. 1997;109:68-73.
107. Crocker AC, Farber S. Therapeutic approaches to the lipidoses. In: Aronson SM, Volk BW, eds. Cerebral sphingolipidoses: A Symposium on Tay Sachs Disease and Allied Disorders. New York: Academic, 1962:421-440.
108. Patterson MC, Di Bisceglie AM, Higgins JJ, et al. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology. 1993;43:61-64.
109. Erickson RP, Garver WS, Camargo F, et al. Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice. J Inherit Metab Dis. 2000;23:54-62.
110. Sturley SL. Personal communication, 2002.
111. Hsu YS, Hwu WL, Huang SF, et al. Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant. 1999;24:103-107.
112. Gartner JC Jr., Bergman I, Malatack JJ, et al. Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation. Pediatrics. 1986;77:104-106.
113. Veyron P, Yoshimura R, Touraine JL. Donor-derived cells in various tissues including brain of Balb/c CSD mice after fetal liver transplantation. Transplant Proc. 1996;28:1778-1779.
114. Veyron P, Mutin M, Touraine JL. Transplantation of fetal liver cells corrects accumulation of lipids in tissues and prevents fatal neuropathy in cholesterol-storage disease BALB/c mice. Transplantation. 1996;62:1039-1045.
115. Touraine JL, Laplace S, Rezzoug F, et al. The place of fetal liver transplantation in the treatment of inborn errors of metabolism. J Inherit Metab Dis. 1991;14:619-626.
116. Platt FM, Neises GR, Dwek RA, et al. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 1994;269:8362-65.
117. Platt FM, Neises GR, Karlsson GB, et al. N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J Biol Chem. 1994;269:27108-114.
118. Platt FM, Neises GR, Reinkensmeier G, et al. Prevention of lysosomal storage in Tay-Sachs mice treated with N- butyldeoxynojirimycin. Science. 1997;276:428-431.
119. Jeyakumar M, Butters TD, Cortina-Borja M, et al. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc Natl Acad Sci USA. 1999;96:6388-6393.
120. Zervas M, Somers KL, Thrall MA, et al. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol. 2001;11:1283-1287.
121. Watabe K, Ida H, Uehara K, et al. Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm). J Peripher Nerv Syst. 2001;6:85-94.
122. Andersson U, Butters TD, Dwek RA, et al. N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochem Pharmacol. 2000;59:821-829.
123. Domenech E, Kelly J. Swallowing disorders. Med Clin North Am 1999;83:97-113, ix.