Brain, Vol. 118, No. 1, 119-129, 1995
© 1995 Oxford University Press
research-article |
Neurofibrillary tangles in Niemann—Pick disease type C
1Department of Neuropathology, Frenchay Hospital Bristol 2Department of Pathology, Southmead Hospital Bristol 3Department of Neuropathology, University of Leeds Leeds, UK
Correspondence to:
Dr S. Love, Department of Neuropathology, Frenchay Hospital, Bristol BS16 ILE, UK
Post-mortem neuropathological examination of five cases of Niemann-Pick disease type C revealed neurofibrillary tangles in many parts of the brain. Tangles were a consistent finding in the hippocampus, hypothalamus, substantia innominata, midbrain pons and medulla. Other regions of the brain in which tangles were present included neocortex, basal ganglia, thalamus, cerebellar cortex in one case, and dentate nucleus in another. The tangles were argyrophilic, fluoresced under ultraviolet light when stained with thioflavin S, and reacted strongly with antibody to tau protein. Some of the tangles could be immunostained for ubiquitin. Electron microscopy, performed in one of the cases, showed the tangles to consist of paired helical filaments ultrastructurally identical to those of Alzheimer's disease. The distribution of the tangles in the central nervous system as a whole and also within many individual neurons corresponded fairly closely with that of the abnormal storage material. Both the tangles and the storage material extended into, and distended, the proximal parts of many dendrites and axons. No A4/ß protein, either in the form of plaques or in the walls of blood vessels, was detected in any of the cases. Our findings suggest that neurofibrillary tangles are a common feature of Niemann-Pick disease type C and that their formation may be a reaction to the abnormal storage material.
Niemann-Pick disease type C; neurofibrillary tangles; paired helical filaments; tau protein
Received July 13, 1994. Revised September 29, 1994. Accepted October 10, 1994.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. Honda, T. Arai, M. Fukazawa, Y. Honda, K. Tsuchiya, A. Salehi, H. Akiyama, and E. Mignot Absence of ubiquitinated inclusions in hypocretin neurons of patients with narcolepsy Neurology, August 18, 2009; 73(7): 511 - 517. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Ohmi, L. C. Kudo, S. Ryazantsev, H.-Z. Zhao, S. L. Karsten, and E. F. Neufeld Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy PNAS, May 19, 2009; 106(20): 8332 - 8337. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. D. Pacheco, M. J. Elrick, and A. P. Lieberman Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis Hum. Mol. Genet., March 1, 2009; 18(5): 956 - 965. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Liao, Y. Yao, J. Liu, Z. Yu, S. Cheung, A. Xie, X. Liang, and X. Bi Cholesterol Accumulation Is Associated with Lysosomal Dysfunction and Autophagic Stress in Npc1 / Mouse Brain Am. J. Pathol., September 1, 2007; 171(3): 962 - 975. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Sevin, G. Lesca, N. Baumann, G. Millat, O. Lyon-Caen, M. T. Vanier, and F. Sedel The adult form of Niemann-Pick disease type C Brain, January 1, 2007; 130(1): 120 - 133. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Walterfang, M. Fietz, M. Fahey, D. Sullivan, P. Leane, D. I. Lubman, and D. Velakoulis The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood J Neuropsychiatry Clin Neurosci, May 1, 2006; 18(2): 158 - 170. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X. Bi, J. Liu, Y. Yao, M. Baudry, and G. Lynch Deregulation of the Phosphatidylinositol-3 Kinase Signaling Cascade Is Associated with Neurodegeneration in Npc1-/- Mouse Brain Am. J. Pathol., October 1, 2005; 167(4): 1081 - 1092. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Yu, M. Ko, K. Yanagisawa, and M. Michikawa Neurodegeneration in Heterozygous Niemann-Pick Type C1 (NPC1) Mouse: IMPLICATION OF HETEROZYGOUS NPC1 MUTATIONS BEING A RISK FOR TAUOPATHY J. Biol. Chem., July 22, 2005; 280(29): 27296 - 27302. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Yu, J.-S. Gong, M. Ko, W. S. Garver, K. Yanagisawa, and M. Michikawa Altered Cholesterol Metabolism in Niemann-Pick Type C1 Mouse Brains Affects Mitochondrial Function J. Biol. Chem., March 25, 2005; 280(12): 11731 - 11739. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. A. Nixon Niemann-Pick Type C Disease and Alzheimer's Disease: The APP-Endosome Connection Fattens Up Am. J. Pathol., March 1, 2004; 164(3): 757 - 761. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Bu, J. Li, P. Davies, and I. Vincent Deregulation of cdk5, Hyperphosphorylation, and Cytoskeletal Pathology in the Niemann-Pick Type C Murine Model J. Neurosci., August 1, 2002; 22(15): 6515 - 6525. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Jaworska-Wilczynska, G. M. Wilczynski, W. K. Engel, D. K. Strickland, K. H. Weisgraber, and V. Askanas Three lipoprotein receptors and cholesterol in inclusion-body myositis muscle Neurology, February 12, 2002; 58(3): 438 - 445. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X. Bi, A. P. Yong, J. Zhou, C. E. Ribak, and G. Lynch Rapid induction of intraneuronal neurofibrillary tangles in apolipoprotein E-deficient mice PNAS, June 28, 2001; (2001) 151253098. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. G. Spillantini, M. Goedert, R. A. Crowther, J. R. Murrell, M. R. Farlow, and B. Ghetti Familial multiple system tauopathy with presenile dementia: A disease with abundant neuronal and glial tau filaments PNAS, April 15, 1997; 94(8): 4113 - 4118. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. P. Henderson, L. Lin, A. Prasad, C. A. Paul, T. Y. Chang, and R. A. Maue Embryonic Striatal Neurons from Niemann-Pick Type C Mice Exhibit Defects in Cholesterol Metabolism and Neurotrophin Responsiveness J. Biol. Chem., June 23, 2000; 275(26): 20179 - 20187. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Sawamura, J.-S. Gong, W. S. Garver, R. A. Heidenreich, H. Ninomiya, K. Ohno, K. Yanagisawa, and M. Michikawa Site-specific Phosphorylation of Tau Accompanied by Activation of Mitogen-activated Protein Kinase (MAPK) in Brains of Niemann-Pick Type C Mice J. Biol. Chem., March 23, 2001; 276(13): 10314 - 10319. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X. Bi, A. P. Yong, J. Zhou, C. E. Ribak, and G. Lynch Rapid induction of intraneuronal neurofibrillary tangles in apolipoprotein E-deficient mice PNAS, July 17, 2001; 98(15): 8832 - 8837. [Abstract] [Full Text] [PDF]
|
|