Article
Brainstem pathology in DYT1 primary torsion dystonia.
Annals of neurology - 1 Oct 2004
McNaught Kevin St P, Kapustin Alexander, Jackson Tehone, Jengelley Toni-Ann, Jnobaptiste Ruth, Shashidharan Pullanipally, Perl Daniel P, Pasik Pedro, Olanow C Warren
Abstract excerpt
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...
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