title: The metabolic pathology of dopa-responsive dystonia.
abstract: We used [(18)F]-fluorodeoxyglucose and positron emission tomography to determine a discrete cerebral pattern of abnormal glucose utilization in dopa-responsive dystonia. Network analysis demonstrated that dopa-responsive dystonia is associated with a specific pattern of regional metabolic covariation, characterized by increases in the dorsal midbrain, cerebellum, and supplementary motor area, as well as reductions in motor and lateral premotor cortex and in the basal ganglia. This pattern was not expressed in mutation carriers for primary torsion dystonia. Dopa-responsive dystonia has a unique metabolic architecture that differs from other inherited forms of dystonia.
authors.affiliation: Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY, USA.
authors.forename: Kotaro
authors.initials: K
authors.lastname: Asanuma
authors.forename: Yilong
authors.initials: Y
authors.lastname: Ma
authors.forename: Chaorui
authors.initials: C
authors.lastname: Huang
authors.forename: Maren
authors.initials: M
authors.lastname: Carbon-Correll
authors.forename: Christine
authors.initials: C
authors.lastname: Edwards
authors.forename: Deborah
authors.initials: D
authors.lastname: Raymond
authors.forename: Susan B
authors.initials: SB
authors.lastname: Bressman
authors.forename: James R
authors.initials: JR
authors.lastname: Moeller
authors.forename: David
authors.initials: D
authors.lastname: Eidelberg
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism*; D001931:Brain Mapping; D004421:Dystonia / Q000188:drug therapy / Q000378:metabolism* / Q000503:physiopathology; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D010300:Parkinson Disease / Q000378:metabolism / Q000503:physiopathology; D049268:Positron-Emission Tomography
chemical_list: D019788:Fluorodeoxyglucose F18; D007980:Levodopa