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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.

Nature genetics | Nov 16, 1998

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.

Pubmed ID: 9806543 RIS Download

Mesh terms: Amino Acid Sequence | Animals | Apoptosis | Ataxia | Base Sequence | Cerebellum | Corneal Opacity | Cystatin B | Cystatins | Cysteine Proteinase Inhibitors | DNA Primers | Disease Models, Animal | Epilepsies, Myoclonic | Female | Humans | Male | Mice | Mice, Inbred C57BL | Mice, Inbred CBA | Mice, Knockout | Models, Genetic | Mutation | Phenotype

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Associated grants

  • Agency: NICHD NIH HHS, Id: HD24064
  • Agency: NINDS NIH HHS, Id: NS29709

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