The metabolic pathology of dopa-responsive dystonia

• Published in: Annals of neurology Vol. 57; no. 4; pp. 596 - 600
• Main Authors: Asanuma, Kotaro, Ma, Yilong, Huang, Chaorui, Carbon-Correll, Maren, Edwards, Christine, Raymond, Deborah, Bressman, Susan B., Moeller, James R., Eidelberg, David
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-04-2005; Willey-Liss
• Subjects: Adult; Biological and medical sciences; Brain - metabolism; Brain Mapping; Diseases of striated muscles. Neuromuscular diseases; Dystonia - drug therapy; Dystonia - metabolism; Dystonia - physiopathology; Female; Fluorodeoxyglucose F18; Humans; Image Processing, Computer-Assisted; Levodopa - therapeutic use; Male; Medical sciences; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Parkinson Disease - metabolism; Parkinson Disease - physiopathology; Positron-Emission Tomography; Segawa disease; Anatomic pathology; Nervous system diseases; Genetic disease
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.20442

We used [18F]‐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. Ann Neurol 2005;57:596–600