| First Author | Pennacchio LA | Year | 1998 |
| Journal | Nat Genet | Volume | 20 |
| Issue | 3 | Pages | 251-8 |
| PubMed ID | 9806543 | Mgi Jnum | J:50587 |
| Mgi Id | MGI:1306977 | Doi | 10.1038/3059 |
| Citation | Pennacchio LA, et al. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 20(3):251-8 |
| abstractText | 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. |
