Brainstem pathology in DYT1 primary torsion dystonia.

@article{McNaught2004BrainstemPI,
  title={Brainstem pathology in DYT1 primary torsion dystonia.},
  author={Kevin St P. McNaught and Alexander Kapustin and Tehone Jackson and Toni-Ann Jengelley and Ruth Jnobaptiste and Pullanipally Shashidharan and Daniel P. Perl and Pedro Pasik and Charles W. Olanow},
  journal={Annals of neurology},
  year={2004},
  volume={56 4},
  pages={540-7}
}
DYT1 dystonia is a severe form of young-onset dystonia caused by a mutation in the gene that encodes for the protein torsinA, which is thought to play a role in protein transport and degradation. We describe, for the first time to our knowledge, perinuclear inclusion bodies in the midbrain reticular formation and periaqueductal gray in four clinically documented and genetically confirmed DYT1 patients but not in controls. The inclusions were located within cholinergic and other neurons in the… CONTINUE READING

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The Journal of neuroscience : the official journal of the Society for Neuroscience • 2005
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DYT6 Dystonia: A Neuropathological Study.

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