Pathogenesis of brain dysfunction in Batten disease

S. U. Walkley, P. A. March, C. E. Schroeder, S. Wurzelmann, R. D. Jolly

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Animal models of Batten disease and other neuronal storage disorders offer important opportunities to study the pathogenesis of brain dysfunction in this family of diseases. Although all of these conditions exhibit progressive intraneuronal storage, we have found that other aspects of the cellular pathology of Batten disease differ markedly from those of storage disorders caused by lysosomal hydrolase deficiencies. Likewise, atrophy of cerebral cortex and other select brain regions, a prominent characteristic of Batten disease, does not occur in most other storage disorders. Our studies indicate that Batten disease has findings in common with human neurodegenerative diseases and that neuron death may be caused by excitotoxicity occurring secondary to the combined effects of suboptimal mitochondrial function and GABAergic (inhibitory) cell loss.

Original languageEnglish (US)
Pages (from-to)196-203
Number of pages8
JournalAmerican journal of medical genetics
Issue number2
StatePublished - 1995


  • GABA
  • excitotoxicity
  • lysosome
  • mitochondria
  • neurodegenerative disease
  • neuronal storage disease

ASJC Scopus subject areas

  • Genetics(clinical)


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