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

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


  • Pennacchio LA
  • Bouley DM
  • Higgins KM
  • Scott MP
  • Noebels JL
  • Myers RM


Nature genetics

Publication Data

November 16, 1998

Associated Grants

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

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