Faculty Research 1980 - 1989
Hereditary leucodystrophy in the mouse: the new mutant twitcher.
Document Type
Article
Publication Date
1980
Keywords
Brain: pa, Disease-Models-Animal, Leukodystrophy-Globoid-Cell: fg, pa, Linkage-(Genetics), Mice, Mice-Neurologic-Mutants, Peripheral-Nerves: pa, SUPPORT-U-S-GOVT-P-H-S
First Page
695
Last Page
710
JAX Location
44,116
JAX Source
Brain. 1980 Sep; 103(3):695-710.
Grant
RR01183, NS09378
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.
Recommended Citation
Duchen LW,
Eicher EM,
Jacobs JM,
Scaravilli F,
Teixeira F.
Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain. 1980 Sep; 103(3):695-710.