Summary
Brindled mutant mouse (MObr) is clinically closely similar to kinky hair syndrome (KHS) in humans. Hemizygous males (MObr/Y) of this mutant usually cannot survive beyond the 15th–16th postnatal day. However, some were found to survive into the adult life. Extensive neuronal degeneration in the cerebral cortex was a prominent neuropathological feature of MObr/Y (Yajima and Suzuki, 1979a). In the long-surviving ones, however, such neuronal degeneration gradually disappeared and cortical neuronal loss and axonal degeneration of the underlying white matter were the predominant neuropathological features. which are closely similar to those of KHS, in particular in those patients who survive for more than 1 year. On the basis of our observations on the brain of MObr/Y mice, we hypothesized the possible chronological events on the development of neuropathological lesions in KHS in humans.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Aguilar, M. J., Chadwick, D. L., Okuyama, K., Kamoshita, S.: Kinky hair disease. I. Clinical and pathological features. J. Neuropathol. Exp. Neurol.25, 507–522 (1966)
Ghatak, N. R., Hirano, A., Poon, T. P., French, J. H.: Trichopoliodystrophy. II. Pathological changes in skeletal muscle and nervous system. Arch. Neurol.26, 60–72 (1972)
Holtzman, N. A.: Menke's kinky hair syndrome: A genetic disease involving copper. Fed. Proc.35, 2276–2280 (1976)
Hunt, D. M.: Primary defect in copper transport underlies mottled mutants in the mouse. Nature249, 852–854 (1974)
Martin, J. J., Flament-Durand, J., Farriaux, J. P., Buyssens, N., Ketelbant-Balasse, P., Jansen, C.: Menkes kinky-hair disease A report on its pathology. Acta Neuropathol. (Berl.)42, 25–32 (1978)
Matsubara, O., Takaoka, H., Nasu, M., Iwakawa, Y., Okeda, R.: An autopsy case of Menkes kinky hair disease. Acta Pathol. Jpn.28, 585–594 (1978)
Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., Sung, J. H.: A sex-liked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics29, 764–779 (1962)
Vagn-Hansen, P. L., Reske-Nielsen, E., Lou, H. C.: Menkes' disease — a new leucodystrophy(?). A clinical and neuropathological review together with a new case. Acta Neuropathol. (Berl.)25, 103–119 (1973)
Vuia, O., Heye, D.: Neuropathologic aspects in Menkes' kinky hair disease (Trichopoliodystrophy). Neuropädiatrie5, 329–339 (1974)
Williams, R. S., Marshall, P. C., Lott, I. T., Caviness, V. S.: The cellular pathology of Menkes steely hair syndrome. Neurology (Minneap.)28, 575–583 (1978)
Wray, S. H., Kuwabara, T., Sanderson, P.: Menkes' kinky hair disease: A light and electron microscope study of the eye. Invest. Ophthal mol. Vic. Sci.15, 128–138 (1975)
Yajima, K., Suzuki, K.: Neuronal degeneration in the brain of the brindled mouse. A light microscope study. J. Neuropathol. Exp. Neurol.38, 35–46 (1979a)
Yajima, K., Suzuki, K.: Neuronal degeneration in the brain of the brindled mouse. An ultrastructural study of the cerebral cortical neurons. Acta Neuropathol. (Berl.)45, 17–25 (1979b)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Yajima, K., Suzuki, K. Neuronal degeneration in the brain of the brindled mouse. Acta Neuropathol 48, 127–132 (1979). https://doi.org/10.1007/BF00691153
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00691153