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Related Experiment Videos

Hereditary leucodystrophy in the mouse: the new mutant twitcher

L W Duchen, E M Eicher, J M Jacobs

    Brain : a Journal of Neurology
    |September 1, 1980
    PubMed
    Summary

    A novel inherited neurological disease, the mutant twitcher mouse model, exhibits progressive weakness and myelin degeneration. This autosomal recessive condition offers insights into human globoid cell leukodystrophy (Krabbe's disease) pathology.

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    Area of Science:

    • Neuroscience
    • Genetics
    • Pathology

    Background:

    • A novel inherited neurological disease, termed the mutant twitcher, has been identified in mice.
    • The disease is transmitted via an autosomal recessive gene (twi).

    Purpose of the Study:

    • To characterize the clinical and pathological features of the mutant twitcher mouse.
    • To investigate the potential of this mouse model for studying human neurological disorders.

    Main Methods:

    • Observation of disease progression from birth to 3 months.
    • Histopathological examination of central and peripheral nervous systems.
    • Electron microscopy of affected tissues.

    Main Results:

    • Affected mice develop tremors at 3 weeks, followed by progressive weakness and wasting, leading to fatality by 3 months.

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  • Key pathological findings include myelin sheath degeneration in both central and peripheral nervous systems.
  • Multinucleated macrophages with PAS-positive cytoplasm and characteristic inclusions were observed, with evidence of remyelination in peripheral nerves.

    • Conclusions:

    • The mutant twitcher mouse exhibits a severe inherited neurological disorder with significant myelin pathology.
    • The observed abnormalities closely resemble human globoid cell leukodystrophy (Krabbe's disease).
    • This mouse model is valuable for investigating the pathogenesis of Krabbe's disease and exploring potential therapeutic strategies.