Elevated Plasma Dopamine-β-Hydroxylase Activity in Autosomal Dominant Torsion Dystonia

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Abstract
Dopamine-β-hydroxylase, the enzyme that converts dopamine to norepinephrine, was measured in the plasma of 41 normal subjects, 24 patients with a clinical and genetic pattern compatible with the autosomal recessive form of torsion dystonia, and 19 patients with a clinical and genetic pattern compatible with the autosomal dominant form of the disease. Plasma levels of activity in the autosomal dominant group (1700 ± 90 U) were higher than those in the control (850 ± 60 U) or the autosomal recessive group (660 ± 70 U) (p less than 0.001). These findings support the clinical and genetic data indicating that there are at least two hereditary forms of torsion dystonia, and provide a diagnostic tool to be used as an adjunct to clinical data for the classification of sporadic cases.