Apoptosis as the mechanism of neurodegeneration in Batten's disease.


Journal Article

Batten's disease is a genetic neurodegenerative disease of childhood. Its hallmarks are retinitis pigmentosa and neuronal degeneration. As some types of photoreceptor death in mice are mediated by apoptosis, we investigated whether apoptosis is responsible for retinal and neuronal degeneration in the late infantile and juvenile forms of Batten's disease. Using the terminal dUDP nick end-labeling (TUNEL) staining method, we detected apoptotic neuronal cells in brain from patients and a canine model and in brain and retina from an ovine model for Batten's disease. We confirmed apoptosis by flow cytometry, electron microscopy, and DNA laddering. This is the first inherited neurodegenerative disease involving brain and retina in which apoptosis has been established as the mechanism of neuronal and photoreceptor cell death in both humans and animal models.

Full Text

Duke Authors

Cited Authors

  • Lane, SC; Jolly, RD; Schmechel, DE; Alroy, J; Boustany, RM

Published Date

  • August 1996

Published In

Volume / Issue

  • 67 / 2

Start / End Page

  • 677 - 683

PubMed ID

  • 8764595

Pubmed Central ID

  • 8764595

International Standard Serial Number (ISSN)

  • 0022-3042

Digital Object Identifier (DOI)

  • 10.1046/j.1471-4159.1996.67020677.x


  • eng

Conference Location

  • England