[Abstract Title]. - Society for Neuroscience

motor areas in manifesting and non-manifesting carriers of the DYT1 mutation. To supplement
human PET studies with data of higher spatial resolution, cytochrome oxidase (CO)
histochemistry was used to map metabolic activity in a mouse model of DYT1 dystonia. CO
activity within neuroanatomical regions of interest (ROIs) was measured in transgenic mice
expressing either human wild-type (hWT) or mutant (hMT1) torsinA and their non-transgenic
(WT) littermates and converted to Z-scores. None of the hMT1 mice exhibited overt
manifestations of dystonia. Compared to WT littermates, hMT1 mice showed increased CO
activity in all layers of cerebellar cortex (molecular, Purkinje cell, granule cell), the medial
cerebellar nucleus, and the ventral posterior thalamic nucleus; and decreased CO activity in the
rostral caudate-putamen, substantia nigra pars reticulata, somatosensory 1 hindlimb region,
somatosensory 1 forelimb region, and ventrolateral geniculate nucleus (P < 0.05, for all). These
findings suggest that a net shift of energy demand from basal ganglia output to the cerebellum is
a feature of the DYT1 carrier state.
Disclosures: Y. Zhao, None; N. Sharma, None; M. Ledoux, None.
Poster
248. Dystonia
Time: Sunday, November 16, 2008, 1:00 pm - 5:00 pm
Program#/Poster#: 248.13/U12
Topic: C.03.j. Dystonia
Support: Bachmann-Strauss Dystonia & Parkinson Foundation
NS047692
Dystonia Medical Research Foundation
NS54246
Title: Characterization of cerebral cortex-specific and Purkinje cell-specific Sgce conditional
knockout mice
Authors: *F. YOKOI 1 , M. T. DANG 2 , Y. LI 1 ;
1 Neurol., Univ. Alabama Birmingham, Birmingham, AL; 2 Univ. of Illinois at Urbana-
Champaign, Urbana, IL
Abstract: DYT11 myoclonus-dystonia is a movement disorder characterized by myoclonic jerks
and rapid muscle contraction combined with dystonic postures and repetitive movements that