The metabolic pathology of dopa-responsive dystonia.
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.
Asanuma
Kotaro
K
Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY, USA.
Ma
Yilong
Y
Huang
Chaorui
C
Carbon-Correll
Maren
M
Edwards
Christine
C
Raymond
Deborah
D
Bressman
Susan B
SB
Moeller
James R
JR
Eidelberg
David
D
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
D019788:Fluorodeoxyglucose F18; D007980:Levodopa