A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.

@article{Awano2006AMI,
  title={A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.},
  author={Tomoyuki Awano and Martin L. Katz and D P O'brien and Jeremy F. Taylor and Jason Evans and Shahnawaz Khan and Istvan Sohar and Peter Lobel and G S Johnson},
  journal={Molecular genetics and metabolism},
  year={2006},
  volume={87 4},
  pages={341-8}
}
We obtained DNA, brains, and eyes from American Bulldogs with neurodegeneration due to neuronal ceroid lipofuscinosis (NCL). The diagnosis of NCL was confirmed by detection of autofluorescent cytoplasmic inclusions within neurons throughout the brains, in retinal ganglion cells, and along outer limiting membranes of the retinas. Electron microscopy revealed that the inclusions had coarsely granular matrices surrounding well-delineated spherical structures and that the inclusions near the… CONTINUE READING
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