Pathogenesis of brain dysfunction in Batten disease

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

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

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
Volume57
Issue number2
DOIs
StatePublished - 1995

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Neuronal Ceroid-Lipofuscinoses
Brain
Hydrolases
Neurodegenerative Diseases
Cerebral Cortex
Atrophy
Animal Models
Pathology
Neurons

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Pathogenesis of brain dysfunction in Batten disease. / Walkley, Steven U.; March, P. A.; Schroeder, C. E.; Wurzelmann, S.; Jolly, R. D.

In: American Journal of Medical Genetics, Vol. 57, No. 2, 1995, p. 196-203.

Research output: Contribution to journalArticle

Walkley, SU, March, PA, Schroeder, CE, Wurzelmann, S & Jolly, RD 1995, 'Pathogenesis of brain dysfunction in Batten disease', American Journal of Medical Genetics, vol. 57, no. 2, pp. 196-203. https://doi.org/10.1002/ajmg.1320570218
Walkley, Steven U. ; March, P. A. ; Schroeder, C. E. ; Wurzelmann, S. ; Jolly, R. D. / Pathogenesis of brain dysfunction in Batten disease. In: American Journal of Medical Genetics. 1995 ; Vol. 57, No. 2. pp. 196-203.
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