Large animal models for Batten disease: a review

J Child Neurol. 2013 Sep;28(9):1123-7. doi: 10.1177/0883073813493666.

Abstract

The neuronal ceroid lipofuscinoses, collectively referred to as Batten disease, make up a group of inherited childhood disorders that result in blindness, motor and cognitive regression, brain atrophy, and seizures, ultimately leading to premature death. So far more than 10 genes have been implicated in different forms of the neuronal ceroid lipofuscinoses. Most related research has involved mouse models, but several naturally occurring large animal models have recently been discovered. In this review, we discuss the different large animal models and their significance in Batten disease research.

Keywords: Batten disease; ONCL; animal models; neuronal ceroid lipofuscinosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Brain / pathology*
  • Cattle
  • Disease Models, Animal*
  • Dogs
  • Membrane Proteins / genetics*
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Sheep

Substances

  • Membrane Proteins