Spontaneous Murine Neuroaxonal Dystrophy: a Model of Infantile Neuroaxonal Dystrophy

D. M. Bouley, J. J. McIntire, B. T. Harris, R. J. Tolwani, G. M. Otto, R. H. DeKruyff, S. J. Hayflick

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

The neuroaxonal dystrophies (NADs) in human beings are fatal, inherited, neurodegenerative diseases with distinctive pathological features. This report describes a new mouse model of NAD that was identified as a spontaneous mutation in a BALB/c congenic mouse strain. The affected animals developed clinical signs of a sensory axonopathy consisting of hindlimb spasticity and ataxia as early as 3 weeks of age, with progression to paraparesis and severe morbidity by 6 months of age. Hallmark histological lesions consisted of spheroids (swollen axons), in the grey and white matter of the midbrain, brain stem, and all levels of the spinal cord. Ultrastructural analysis of the spheroids revealed accumulations of layered stacks of membranes and tubulovesicular elements, strongly resembling the ultrastructural changes seen in the axons of human patients with endogenous forms of NAD. Mouse NAD would therefore seem a potentially valuable model of human NADs.

Original languageEnglish (US)
Pages (from-to)161-170
Number of pages10
JournalJournal of Comparative Pathology
Volume134
Issue number2-3
DOIs
StatePublished - Feb 2006

Keywords

  • man
  • mouse model
  • neuroaxonal dystrophy
  • spheroids

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • veterinary(all)

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    Bouley, D. M., McIntire, J. J., Harris, B. T., Tolwani, R. J., Otto, G. M., DeKruyff, R. H., & Hayflick, S. J. (2006). Spontaneous Murine Neuroaxonal Dystrophy: a Model of Infantile Neuroaxonal Dystrophy. Journal of Comparative Pathology, 134(2-3), 161-170. https://doi.org/10.1016/j.jcpa.2005.10.002