Amino acid changes in the mouse mutant dystonia musculorum similar to those in Friedreich's ataxia.
An autosomal recessive mutant strain of mouse with a progressive neurological disorder is described. Histopathology is dramatic in the sensory afferents and in the red nucleus. In the cerebellar vermis the concentrations of glutamate, aspartate, glycine and GABA are significantly reduced, and in the cerebellar hemispheres the taurine/glutamate ratio is elevated. These mice may provide a useful experimental model of Friedreich's ataxia.
D000596:Amino Acids / Q000378:metabolism*; D000818:Animals; D001921:Brain / Q000378:metabolism; D004422:Dystonia Musculorum Deformans / Q000378:metabolism*; D005621:Friedreich Ataxia / Q000378:metabolism*; D051379:Mice; D008807:Mice, Inbred BALB C; D008818:Mice, Neurologic Mutants; D018377:Neurotransmitter Agents / Q000378:metabolism
D000596:Amino Acids; D018377:Neurotransmitter Agents