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  • Title: Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.
    Author: Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM.
    Journal: Nat Genet; 1998 Nov; 20(3):251-8. PubMed ID: 9806543.
    Abstract:
    Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1). The primary cellular events and mechanisms underlying the disease are unknown. We found that mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in the human disease. The principal cytopathology appears to be a loss of cerebellar granule cells, which frequently display condensed nuclei, fragmented DNA and other cellular changes characteristic of apoptosis. This mouse model of EPM1 provides evidence that cystatin B, a non-caspase cysteine protease inhibitor, has a role in preventing cerebellar apoptosis.
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