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Rapid-onset dystonia-parkinsonism

Division of Pediatric Neurology, Department of Neurology (Dr. Dobyns), University of Minnesota Medical School, Minneapolis, MN; the Molecular Neurogenetics Unit, Neuroscience Center (Neurology) (Drs. Ozelius and Breakefield), Massachusetts General Hospital, Charlestown, MA; the Neuroscience Program (Dr. Breakefield), Harvard Medical School, Boston, 1MA, the Department of Neurology (Dr. Kramer), Oregon Health Sciences University, Portland, OR; the Department of Neurology (Drs. Dobyns, Brashear, Farlow, Perry, and Walsh), Indiana University School of Medicine, Indianapolis, IN; the Department of Neurology (Dr. Kasarskis), University of Kentucky Medical School, Lexington, KY; and the Department of Neurology (Dr. Butler), University of Texas Medical School, Houston, TX.

We studied a large family with a previously undescribed, autosomal dominant dystonia-parkinsonism syndrome. We chose to call the disorder "rapid-onset dystonia-parkinsonism" (RDP) based on the unusually rapid evolution of signs and symptoms. Affected individuals developed dystonia and parkinsonism between 14 and 45 years of age. The onset was acute in six individuals with the abrupt onset of symptoms over the course of several hours, and subacute in four others who had evolution over several days or weeks. Thereafter, progression of symptoms was usually very slow. Two had intermittent focal dystonia without parkinsonism, and one obligate gene carrier was asymptomatic at 68 years. CSF levels of homovanillic acid were decreased in the two individuals tested, but dopaminergic therapy provided only slight benefit. The DYT1 gene responsible for early-onset, generalized idiopathic torsion dystonia in Jewish and some non-Jewish families has been mapped to chromosome 9q34. Linkage analysis with three markers near the DYT1 gene showed several obligate recombinations, excluding DYT1 as a candidate gene for RDP. We believe RDP is unique and should be classified separately from other forms of hereditary dystonia-parkinsonism.

Address correspondence and reprint requests to Dr. William B. Dobyns, Division of Pediatric Neurology, Box 486 UMHC, 420 Delaware Street SE, Minneapolis, MN 55455.

I.J.B. was supported in part by Clinical Research Center grant no. RR02558 at the University of Texas Medical School, Houston. X.O.B. was supported by NINDS grant no. NS28384 and a grant from the Dystonia Medical Research Foundation.

Received December 14, 1992. Accepted for publication in final form May 28, 1993.

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