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Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation

From the Movement Disorders Research Laboratory (Dr. Furukawa) and Human Neurochemical Pathology Laboratory (Dr. Kish), Centre for Addiction and Mental Health, The Clarke Division, Toronto, Ontario, Canada; Institute of Biochemical Pharmacology (Dr. Hornykiewicz), University of Vienna, Austria; and the Department of Neurology (Dr. Fahn), Columbia-Presbyterian Medical Center, New York, NY.

Address correspondence and reprint requests to Dr. Yoshiaki Furukawa, Movement Disorders Research Laboratory (R 211), Centre for Addiction and Mental Health, The Clarke Division, 250 College Street, Toronto, Ontario M5T 1R8, Canada; e-mail: Yoshiaki_Furukawa{at}camh.net

Although nigrostriatal dopaminergic dysfunction has been suggested in early onset primary torsion dystonia (PTD) with the DYT1 mutation, the actual status of brain dopamine (DA) is unknown. In a DYT1 mutation–positive autopsy patient with PTD, we found that nigral cellularity was normal and that subregional striatal DA levels were within the control range, except for those in the rostral portions of the putamen and caudate nucleus (50% to 54% of control means). Our data suggest that the DYT1 mutation is not associated with significant damage to the nigrostriatal DA system, in keeping with the absence of parkinsonism and levodopa response in this disorder.

Key words: Early-onset primary torsion dystonia—DYT1 mutation—TorsinA—Dopamine—Dopa-responsive dystonia.

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