Matthew P. Scott

Publication Details

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

  Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Nat Genet. 1998; 20 (3): 251-8

  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.

  PubMedID: 9806543