| First Author | Duchen LW | Year | 1980 |
| Journal | Brain | Volume | 103 |
| Issue | 3 | Pages | 695-710 |
| PubMed ID | 7417782 | Mgi Jnum | J:6390 |
| Mgi Id | MGI:54866 | Doi | 10.1093/brain/103.3.695 |
| Citation | Duchen LW, et al. (1980) Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain 103(3):695-710 |
| abstractText | 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. |
