Abnormal structure-function relationships in hereditary dystonia

• Published in: Neuroscience Vol. 164; no. 1; pp. 220 - 229
• Main Authors: Carbon, M., Eidelberg, D.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Ltd 24.11.2009
• Subjects: Animals; brain activation; Deep Brain Stimulation; Dystonic Disorders - genetics; Dystonic Disorders - pathology; Dystonic Disorders - physiopathology; Dystonic Disorders - therapy; DYT1; DYT6; Humans; Molecular Chaperones - genetics; motor sequence learning; Neural Pathways - pathology; Neural Pathways - physiopathology; Neurology; positron emission tomography; primary torsion dystonia; Receptors, Dopamine D2 - genetics; Receptors, Dopamine D2 - metabolism; GPi; PTD; VSEQ; motor sequence learning; OT; primary torsion dystonia; SMA; MT; PMC; FDG; brain activation; TDRP; DYT1; DBS; ANOVA; RAC; MSEQ; DYT6; DTI; DYT-RP; positron emission tomography; PET; [ 11C]-raclopride; premotor cortex; onset time; internal globus pallidus; analysis of variance; [ 18F]-fluorodeoxyglucose; movement time; visual sequence learning task; dystonia manifestation-related pattern; torsion dystonia-related pattern; motor sequence learning task; deep brain stimulation; supplementary motor area; diffusion tensor MRI

Primary torsion dystonia (PTD) is a chronic movement disorder manifested clinically by focal or generalized sustained muscle contractions, postures, and/or involuntary movements. The most common inherited form of PTD is associated with the DYT1 mutation on chromosome 9q34. A less frequent form is li...