Faculty Research 1980 - 1989

Title

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

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.

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