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J Comp Pathol. 2006 Feb-Apr;134(2-3):161-70. Epub 2006 Mar 20.

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

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1
Department of Comparative Medicine, Stanford University School of Medicine, Stanford, CA, USA.

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.

PMID:
16542671
PMCID:
PMC2099456
DOI:
10.1016/j.jcpa.2005.10.002
[Indexed for MEDLINE]
Free PMC Article
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