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HEREDITARY LEUCODYSTROPHY IN THE MOUSE: THE NEW MUTANT TWITCHER
Abstract
A new inherited neurological disease in the mouse (the mutant twitcher) has been studied. Transmission is by an autosomal recessive gene (twi). Affected animals are apparently normal at birth but develop a generalized tremor at about 3 weeks of age followed by progressive weakness and wasting. The disease is fatal by 3 months. The principal pathological changes affect the myelin of both central and peripheral nervous systems. Degeneration of myelin sheaths and the presence of multinucleated macrophages with PAS-positive cytoplasm are characteristic findings. Peripheral nerves show remyelination following demyelination. Electron microscopically the macrophages contain a variety of inclusions in which there are crystalline and multi-angular structures and twisted tubules. The abnormalities closely resemble those found in globoid cell leucodystrophy (Krabbe's disease) in man.
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Cited by
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
Cappello, V., Marchetti, L., Parlanti, P., Landi, S., Tonazzini, I., Cecchini, M., Piazza, V., & Gemmi, M. (2016) · Scientific Reports · doi:10.1038/s41598-016-0001-8 · Cited by 13,097
Deuschl, G., Raethjen, J., Lindemann, M., & Krack, P. (2001) · Muscle & Nerve · doi:10.1002/mus.1063 · Cited by 508
Kobayashi, T., Yamanaka, T., Jacobs, J. M., Teixeira, F., & Suzuki, K. (1980) · Brain Research · doi:10.1016/0006-8993(80)90159-6 · Cited by 254
Self-citationDickey, C. A., Yue, M., Lin, W.-L., Dickson, D. W., Dunmore, J. H., Lee, W. C., Zehr, C., West, G., Cao, S., Clark, A. M. K., et al. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.0746-06.2006 · Cited by 248
Akt and CHIP coregulate tau degradation through coordinated interactions
Dickey, C. A., Koren, J., Zhang, Y.-J., Xu, Y.-F., Jinwal, U. K., Birnbaum, M. J., Monks, B., Sun, M., Cheng, J. Q., Patterson, C., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0709180105 · Cited by 226
Metadata
- Authors
- DUCHEN, L. W., EICHER, E. M., JACOBS, J. M., SCARAVILLI, F., & TEIXEIRA, F.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 1980
- Volume
- 103
- Issue
- 3
- Pages
- 695-710
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2064677616
- Cited by
- 242
- References
- 0
- FWCI
- 10.17
- Type
- journal article
- Language
- en
- Open access
- closed
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- DUCHEN, L. W., EICHER, E. M., JACOBS, J. M., SCARAVILLI, F., & TEIXEIRA, F. (1980). HEREDITARY LEUCODYSTROPHY IN THE MOUSE: THE NEW MUTANT TWITCHER. Brain. https://doi.org/10.1093/brain/103.3.695
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.