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Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy.

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.

Pubmed ID: 16542671

Authors

  • Bouley DM
  • McIntire JJ
  • Harris BT
  • Tolwani RJ
  • Otto GM
  • DeKruyff RH
  • Hayflick SJ

Journal

Journal of comparative pathology

Publication Data

April 17, 2006

Associated Grants

  • Agency: NICHD NIH HHS, Id: R01 HD050832-01A1

Mesh Terms

  • Animals
  • Axons
  • Central Nervous System
  • Disease Models, Animal
  • Female
  • Gait Ataxia
  • Hindlimb
  • Male
  • Mice
  • Mice, Congenic
  • Mice, Inbred BALB C
  • Mice, Inbred DBA
  • Muscle Spasticity
  • Mutation
  • Neuroaxonal Dystrophies
  • Rodent Diseases