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| RAPID-ONSET DYSTONIA-PARKINSONISM |
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| Author(s): DOBYNS WB, OZELIUS LJ, KRAMER PL, BRASHEAR A, FARLOW MR, PERRY TR, WALSH LE, KASARSKIS EJ, BUTLER IJ, BREAKEFIELD XO |
| Source: NEUROLOGY Volume: 43 Issue: 12 Pages: 2596-2602 Published: DEC 1993 |
| Times Cited: 66 References: 38 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: DOBYNS, WB (reprint author), UNIV MINNESOTA, SCH MED, DEPT PEDIAT, DIV PEDIAT NEUROL, BOX 486 UMHC, 420 DELAWARE ST SE, MINNEAPOLIS, MN 55455 USA |
Addresses:
1. MASSACHUSETTS GEN HOSP, NEUROSCI CTR NEUROL, MOLEC NEUROGENET UNIT, BOSTON, MA USA
2. HARVARD UNIV, SCH MED, NEUROSCI PROGRAM, BOSTON, MA 02115 USA
3. OREGON HLTH SCI UNIV, DEPT NEUROL, PORTLAND, OR 97201 USA
4. INDIANA UNIV, SCH MED, DEPT NEUROL, INDIANAPOLIS, IN 46202 USA
5. UNIV KENTUCKY, SCH MED, DEPT NEUROL, LEXINGTON, KY 40506 USA
6. UNIV TEXAS, SCH MED, DEPT NEUROL, HOUSTON, TX 77025 USA |
| Publisher: LITTLE BROWN CO, 34 BEACON STREET, BOSTON, MA 02108-1493 |
| Subject Category: Clinical Neurology |
| IDS Number: MM324 |
| ISSN: 0028-3878 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |