Journal articles: 'Niemann Pick Type C'

1

Patterson, M. C., and P. G. Pentchev. "Niemann-Pick; Type C." Neurology 46, no. 6 (June 1, 1996): 1785–86. http://dx.doi.org/10.1212/wnl.46.6.1785-b.

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2

Millichap, J. Gordon. "Niemann-Pick Disease Type C." Pediatric Neurology Briefs 3, no. 9 (September 1, 1989): 68. http://dx.doi.org/10.15844/pedneurbriefs-3-9-7.

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3

Cobcroft, Ralph. "Type C Niemann-Pick disease." British Journal of Haematology 111, no. 3 (December 2000): 718. http://dx.doi.org/10.1046/j.1365-2141.2000.02536.x.

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4

Tarugi, Patrizia, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, and Sebastiano Calandra. "Niemann-Pick type C disease." Journal of Lipid Research 43, no. 11 (August 16, 2002): 1908–19. http://dx.doi.org/10.1194/jlr.m200203-jlr200.

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5

Cobcroft, Ralph. "Type C Niemann-Pick disease." British Journal of Haematology 111, no. 3 (December 2000): 718. http://dx.doi.org/10.1111/j.1365-2141.2000.02536.x.

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6

Yu, Daozhan, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan Coksaygan, et al. "Niemann–Pick Disease Type C." Journal of Biomolecular Screening 19, no. 8 (June 6, 2014): 1164–73. http://dx.doi.org/10.1177/1087057114537378.

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Niemann–Pick disease type C (NPC) is a rare neurodegenerative disorder caused by recessive mutations in the NPC1 or NPC2 gene that result in lysosomal accumulation of unesterified cholesterol in patient cells. Patient fibroblasts have been used for evaluation of compound efficacy, although neuronal degeneration is the hallmark of NPC disease. Here, we report the application of human NPC1 neural stem cells as a cell-based disease model to evaluate nine compounds that have been reported to be efficacious in the NPC1 fibroblasts and mouse models. These cells are differentiated from NPC1 induced pluripotent stem cells and exhibit a phenotype of lysosomal cholesterol accumulation. Treatment of these cells with hydroxypropyl-β-cyclodextrin, methyl-β-cyclodextrin, and δ-tocopherol significantly ameliorated the lysosomal cholesterol accumulation. Combined treatment with cyclodextrin and δ-tocopherol shows an additive or synergistic effect that otherwise requires 10-fold higher concentration of cyclodextrin alone. In addition, we found that hydroxypropyl-β-cyclodextrin is much more potent and efficacious in the NPC1 neural stem cells compared to the NPC1 fibroblasts. Miglustat, suberoylanilide hydroxamic acid, curcumin, lovastatin, pravastatin, and rapamycin did not, however, have significant effects in these cells. The results demonstrate that patient-derived NPC1 neural stem cells can be used as a model system for evaluation of drug efficacy and study of disease pathogenesis.

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7

Elleder, M., A. Jirásek, F. Šmíd, J. Ledvinová, and G. T. N. Besley. "Niemann-Pick disease type C." Acta Neuropathologica 66, no. 4 (December 1985): 325–36. http://dx.doi.org/10.1007/bf00690966.

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8

Vanier, MT, and G. Millat. "Niemann-Pick disease type C." Clinical Genetics 64, no. 4 (September 15, 2003): 269–81. http://dx.doi.org/10.1034/j.1399-0004.2003.00147.x.

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9

Liscum, Laura, and Judeth J. Klansek. "Niemann–Pick disease type C." Current Opinion in Lipidology 9, no. 2 (April 1998): 131–35. http://dx.doi.org/10.1097/00041433-199804000-00009.

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10

Tohyama, Jun, Mitsuhiro Kato, Tatsuya Koeda, and Kousaku Ohno. "Type C Niemann-Pick disease." Brain and Development 15, no. 4 (July 1993): 316–17. http://dx.doi.org/10.1016/0387-7604(93)90033-5.

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11

Vanier, Marie. "Niemann-Pick disease type C." Molecular and Chemical Neuropathology 27, no. 1 (January 1996): 70–72. http://dx.doi.org/10.1007/bf02815049.

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12

Schiffmann, Raphael. "Niemann-Pick Disease Type C." JAMA 276, no. 7 (August 21, 1996): 561. http://dx.doi.org/10.1001/jama.1996.03540070057031.

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13

Palmer, Millicent. "Niemann-Pick Disease—Type C." Archives of Ophthalmology 103, no. 6 (June 1, 1985): 817. http://dx.doi.org/10.1001/archopht.1985.01050060077030.

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14

Buchino, John J. "Case 1 Niemann-Pick Type C." Pediatric Pathology 13, no. 6 (January 1993): 841–45. http://dx.doi.org/10.3109/15513819309048270.

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15

WALDRON, JAMES S., and ANDREW T. PARSA. "Hope For Niemann- Pick Type C Disease." Neurosurgery 55, no. 3 (September 2004): N8. http://dx.doi.org/10.1227/01.neu.0000309674.94569.14.

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16

Imrie, J., S. Vijayaraghaven, C. Whitehouse, S. Harris, L. Heptinstall, H. Church, A. Cooper, G. T. N. Besley, and J. E. Wraith. "Niemann-Pick disease type C in adults." Journal of Inherited Metabolic Disease 25, no. 6 (November 2002): 491–500. http://dx.doi.org/10.1023/a:1021259403196.

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17

Pentchev, Peter G., and Marc C. Patterson. "Diagnosis of Niemann-Pick disease type C." Journal of Pediatrics 124, no. 4 (April 1994): 655–56. http://dx.doi.org/10.1016/s0022-3476(05)83155-5.

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18

Vanier, M. T., P. Pentchev, C. Rodriguez-Lafrasse, and R. Rousson. "Niemann-Pick disease type C: An update." Journal of Inherited Metabolic Disease 14, no. 4 (July 1991): 580–95. http://dx.doi.org/10.1007/bf01797928.

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19

Patterson, Marc C., and Frances Platt. "Therapy of Niemann–Pick disease, type C." Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1685, no. 1-3 (October 2004): 77–82. http://dx.doi.org/10.1016/j.bbalip.2004.08.013.

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20

Omarini, L. P. A., S. E. Frank-Burkhardt, T. A. Seemayer, G. Mentha, and F. Terrier. "Niemann-Pick disease type C: nodular splenomegaly." Abdominal Imaging 20, no. 2 (March 1995): 157–60. http://dx.doi.org/10.1007/bf00201528.

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21

Lossos, Alexander. "Adult-Onset Niemann-Pick Type C Disease." Archives of Neurology 54, no. 12 (December 1, 1997): 1536. http://dx.doi.org/10.1001/archneur.1997.00550240084016.

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22

Patterson, Marc C., Colette C. Parker, and Joseph J. Parisi. "Demyelination in niemann-pick disease, type C." Pediatric Neurology 11, no. 2 (September 1994): 123. http://dx.doi.org/10.1016/0887-8994(94)90293-3.

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23

Yazdi, Narges, Alfonso Fasano, Anthony E. Lang, and Mohammad Rohani. "Gelastic Cataplexy in Niemann Pick Type C." Movement Disorders Clinical Practice 6, no. 6 (June 26, 2019): 498–99. http://dx.doi.org/10.1002/mdc3.12786.

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24

Tumer, Leyla, Asburce Olgac, Gursel Biberoglu, Sinan Sari, Buket Dalgic, and Alev Hasanoglu. "Isovaleric acidemia and Niemann–Pick disease type C coexistence and new mutation for Niemann–Pick disease type C." Molecular Genetics and Metabolism 114, no. 2 (February 2015): S117—S118. http://dx.doi.org/10.1016/j.ymgme.2014.12.270.

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25

Çakar, Nafiye Emel, and Hasan Önal. "Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment." Ideggyógyászati szemle 74, no. 3-4 (2021): 139–44. http://dx.doi.org/10.18071/isz.74.0139.

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Niemann-Pick type C is a rare lysosomal storage disease caused by impaired intracellular cholesterol transport. The autosomal recessive disease is caused by mutations in NPC1 or NPC2 genes. Clinical-laboratory features, genotype-phenotype correlation and miglustat treatment response of our patients diagnosed with early infantile Niemann-Pick type C were evaluated. In this article, four Niemann-Pick type C patients diagnosed in the early infantile period are presented. Common features of our patients were hepatomegaly, splenomegaly, cholestasis and retardation in motor development. Patients 1 and 2 are twins, with homozygous mutation c.2776G>A p.(Ala926Thr) in NPC1 gene and severe lung involvement. Lung involvement, which is mostly associated with NPC2 gene mutation in the literature, was severe in our patients and they died early. In patients 3 and 4, there were respectively c.2972del p.(Gln991Argfs*6) mutation in NPC1 gene and c.133C>T p.(Gln45*) homozygous mutation in NPC2 gene. In these two patients, improvement in neurological findings were observed with treatment of miglustat. In our twin patients, severe lung involvement was observed. Two of our four early infantile Niemann-Pick type C patients exhibited neurological gains with miglustat treatment.

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26

Klünemann, Hans H., J. Edmond Wraith, and Frits A. Wijburg. "Niemann-Pick Type C Disease - Report on Results from the Niemann-Pick Type C Patient and Healthcare Professional Survey." European Neurological Review 6, no. 1 (2011): 12. http://dx.doi.org/10.17925/enr.2011.06.01.12.

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Niemann-Pick type C disease (NPC) is a rare and progressive genetic condition that is associated with an abnormal accumulation of lysosomal lipids in the body, which manifests as a variety of neurological symptoms that range greatly in severity. Management focuses largely on treating symptoms, but recent developments have led to disease-specific therapy that can slow or stabilise the progression of neurological symptoms in some patients. The Niemann-Pick type C Patient and Healthcare Professional Survey conducted interviews with parents and carers of patients with NPC and with healthcare professionals to identify areas of NPC diagnosis, management and support that need improvement. Specifically, an emphasis was placed on increased awareness of the disease and disease symptoms with enhanced communication between doctors, their colleagues and parents of patients in order to facilitate the diagnostic process and the hope for earlier diagnoses, thereby enabling access to disease-specific treatment. The survey identified a need among families of patients with NPC for more support from doctors in the provision of information about the disease and about locally based social and psychological support, and for support from healthcare organisations that should coordinate all the available services. Such co-ordination could ensure that consistent support is provided for all aspects of patient care and for patients’ families and carers.

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27

Kim, Sun-Jung, Joon-Suk Park, and Kyung-Sun Kang. "Stem Cells in Niemann-Pick Disease." Disease Markers 24, no. 4-5 (2008): 231–38. http://dx.doi.org/10.1155/2008/389815.

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Neural stem cells are multi-potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann-Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects the function of NPC1 protein. We reported that NPC 1 gene deficiency could lead to lack of the self renewal ability of neural stem cells in Niemann pick type C disease. We also investigated many genes which are involved in stem cells proliferation and differentiation by gene profile in NPC mice.Diagnosis of NPC disease is difficult because it is accompanied by complicated symptoms and the fact that there is no effective treatment for NPC patients. Studies of these stem cells and their relationship to Niemann pick type C disease will provide new biomarkers for early diagnosis as well as a potential cure by use of targeted therapeutics for Niemann pick type C disease.

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28

Cologna, Stephanie M. "A calcium message for Niemann-Pick type C." Journal of Cell Biology 218, no. 12 (November 14, 2019): 3890–91. http://dx.doi.org/10.1083/jcb.201911021.

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Calcium is a ubiquitous secondary messenger that is critical for cellular function. In the highlighted article, Tiscione et al. (2019. J. Cell. Biol. https://doi.org/10.1083/jcb.201903018) describe a link between lysosomal cholesterol storage, calcium distribution alterations, and neuronal morphology in the neurodegenerative disorder Niemann-Pick type C.

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29

Tangde, Ashwini, Shubhajyoti Pore, Anjali Kulkarni, Anil Joshi, and Rajan Bindu. "Niemann-pick disease type A-a case report." International Journal of Research in Medical Sciences 6, no. 1 (December 23, 2017): 366. http://dx.doi.org/10.18203/2320-6012.ijrms20175752.

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Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase. It leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs. Niemann-Pick Disease is classified into four types such as A, B, C and D. We present a case of niemann-pick disease type A. This case report encompasses an 18-month-old male child brought with complaints of progressive abdominal distension, developmental delay, intermittent fever and excessive cry. On examination patient had developmental delay and significant abdominal distension with moderate hepatosplenomegaly. Bone marrow examination showed characteristic lipid laden foamy histiocytes termed as niemann pick cells and sea blue histiocytes. Later on, liver biopsy and splenic aspiration cytology was performed, which also showed same type of foamy cells. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A so far. It’s a rare disease in India. Genetic counseling.

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30

Zakharova, E. Yu, S. V. Mikhailova, T. Yu Proshlyakova, and G. E. Rudenskaya. "CLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE C." Annals of the Russian academy of medical sciences 67, no. 12 (December 10, 2012): 60–65. http://dx.doi.org/10.15690/vramn.v67i12.483.

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Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.

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31

Patel, Aanand A., Anthony Sisk, and Jonathan E. Zuckerman. "Niemann-Pick disease type C with kidney involvement." Human Pathology: Case Reports 23 (March 2021): 200486. http://dx.doi.org/10.1016/j.ehpc.2021.200486.

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32

Novikova, E. S., A. S. Kotov, Yu Yu Kotalevskaya, L. Yu Glukhova, M. S. Bunak, and N. A. Semenova. "Niemann—Pick type C disease in a child." Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 117, no. 11 (2017): 62. http://dx.doi.org/10.17116/jnevro201711711262-66.

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33

Sitarska, Dominika, Anna Tylki-Szymańska, and Agnieszka Ługowska. "Treatment trials in Niemann-Pick type C disease." Metabolic Brain Disease 36, no. 8 (October 1, 2021): 2215–21. http://dx.doi.org/10.1007/s11011-021-00842-0.

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AbstractNiemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood–brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies.

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34

Platt, Nick, Annelise O. Speak, Alexandria Colaco, James Gray, David A. Smith, Ian M. Williams, Kerri-Lee Wallom, and Frances M. Platt. "Immune dysfunction in Niemann-Pick disease type C." Journal of Neurochemistry 136 (June 4, 2015): 74–80. http://dx.doi.org/10.1111/jnc.13138.

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35

Twarling, Ann, Kim Michael, and Jody Berg. "Sonographic Evaluation of Niemann-Pick Disease Type C." Journal of Diagnostic Medical Sonography 20, no. 3 (June 2004): 198–201. http://dx.doi.org/10.1177/8756479304265036.

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36

Fink, J. K., M. R. Filling-Katz, J. Sokol, D. G. Cogan, A. Pikus, B. Sonies, B. Soong, et al. "Clinical spectrum of Niemann-Pick disease type C." Neurology 39, no. 8 (August 1, 1989): 1040. http://dx.doi.org/10.1212/wnl.39.8.1040.

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37

SULLIVAN, DANNY, MARK WALTERFANG, and DENNIS VELAKOULIS. "Bipolar Disorder and Niemann-Pick Disease Type C." American Journal of Psychiatry 162, no. 5 (May 2005): 1021—a—1022. http://dx.doi.org/10.1176/appi.ajp.162.5.1021-a.

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38

Love, Seth, Leslie R. Bridges, and C. Patrick Case. "Neurofibrillary tangles in Niemann—Pick disease type C." Brain 118, no. 1 (February 1995): 119–29. http://dx.doi.org/10.1093/brain/118.1.119.

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39

Shulman, L. M., N. J. David, and W. J. Weiner. "Reply from the Authors: Niemann-Pick; type C." Neurology 46, no. 6 (June 1, 1996): 1786. http://dx.doi.org/10.1212/wnl.46.6.1786.

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40

Patterson, Marc C., and Steven U. Walkley. "Niemann-Pick disease, type C and Roscoe Brady." Molecular Genetics and Metabolism 120, no. 1-2 (January 2017): 34–37. http://dx.doi.org/10.1016/j.ymgme.2016.11.008.

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41

Al Menabawy, Nihal M., Iman G. Mahmoud, Nour M. EL Khateeb, Ahmed M. Sobhy, Maha S. Zaki, Joseph Gleeson, Arndt Rolfs, and Laila A. Selim. "Niemann-Pick disease type C: a diagnostic challenge." Molecular Genetics and Metabolism 120, no. 1-2 (January 2017): S19. http://dx.doi.org/10.1016/j.ymgme.2016.11.016.

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42

Steven, LC, and CP Driver. "Niemann-Pick Disease Type C and Crohn's Disease." Scottish Medical Journal 50, no. 2 (May 2005): 80–81. http://dx.doi.org/10.1177/003693300505000213.

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A five year old girl with Neimann-Pick disease type C subsequently developed Crohn's Disease. This association has only been presented once previously in the literature. This report discusses the options for managing one chronic disease in the presence of another life limiting condition.

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43

Bremova, Tatiana, Věra Malinová, Yasmina Amraoui, Eugen Mengel, Jörg Reinke, Miriam Kolníková, and Michael Strupp. "Acetyl-dl-leucine in Niemann-Pick type C." Neurology 85, no. 16 (September 23, 2015): 1368–75. http://dx.doi.org/10.1212/wnl.0000000000002041.

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44

Schedin, Sophia, Pavel J. Sindelar, Peter Pentchev, Ulf Brunk, and Gustav Dallner. "Peroxisomal Impairment in Niemann-Pick Type C Disease." Journal of Biological Chemistry 272, no. 10 (March 7, 1997): 6245–51. http://dx.doi.org/10.1074/jbc.272.10.6245.

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45

IKONEN, E., and M. HOLTTAVUORI. "Cellular pathology of Niemann–Pick type C disease." Seminars in Cell & Developmental Biology 15, no. 4 (August 2004): 445–54. http://dx.doi.org/10.1016/j.semcdb.2004.03.001.

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46

Tranchant, C. "La maladie de Niemann-Pick de type C." Pratique Neurologique - FMC 2, no. 4 (December 2011): 229–36. http://dx.doi.org/10.1016/j.praneu.2011.07.001.

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47

Nixon, Ralph A. "Niemann-Pick Type C Disease and Alzheimer's Disease." American Journal of Pathology 164, no. 3 (March 2004): 757–61. http://dx.doi.org/10.1016/s0002-9440(10)63163-x.

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48

Suzuki, Kipuko, Colette C. Parker, Peter G. Pentchev, David Katz, Bernardino Ghetti, Anthony N. D'Agostino, and Eugene D. Carstea. "Neurofibrillary tangles in Niemann-Pick disease type C." Acta Neuropathologica 89, no. 3 (March 1995): 227–38. http://dx.doi.org/10.1007/bf00309338.

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49

Lowenthal, A. C., J. F. Cummings, D. A. Wenger, M. A. Thrall, P. A. Wood, and A. de Lahunta. "Feline sphingolipidosis resembling Niemann-Pick disease type C." Acta Neuropathologica 81, no. 2 (December 1990): 189–97. http://dx.doi.org/10.1007/bf00334507.

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50

Ong, Wei-Yi, Ujendra Kumar, Robert Switzer, Anita Sidhu, Geetha Suresh, Chang-Yong Hu, and Shutish Patel. "Neurodegeneration in Niemann-Pick type C disease mice." Experimental Brain Research 141, no. 2 (November 1, 2001): 218–31. http://dx.doi.org/10.1007/s002210100870.

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Journal articles on the topic 'Niemann Pick Type C'

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