| Autor: |
P L, Kramer, M, Mineta, C, Klein, K, Schilling, D, de Leon, M R, Farlow, X O, Breakefield, S B, Bressman, W B, Dobyns, L J, Ozelius, A, Brashear |
| Rok vydání: |
1999 |
| Předmět: |
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| Zdroj: |
Annals of neurology. 46(2) |
| ISSN: |
0364-5134 |
| Popis: |
Rapid-onset dystonia-parkinsonism (RPD) is an autosomal dominant movement disorder characterized by sudden onset of persistent dystonia and parkinsonism, generally during adolescence or early adulthood. Symptoms evolve over hours or days, and generally stabilize within a few weeks, with slow or no progression. Other features include little or no response to L-dopa, and low levels of homovanillic acid in the central nervous system. Neuroimaging studies indicate no degeneration of dopaminergic nerve terminals in RDP, suggesting that this disorder results from a functional deficit, as in dystonia, rather than neuronal loss, as in Parkinson's disease. We studied 81 members of two midwestern US families with RDP, 16 of whom exhibited classic features of RDP. We found significant evidence for linkage in these two families to markers on chromosome 19q13, with the highest multipoint LOD score at D19S198 (z = 5.77 at theta = 0.0). The flanking markers D19S587 and D19S900 define a candidate region of approximately 8 cM. Although RDP itself is a rare condition, it is important because it has clinical and biochemical similarities to both Parkinson's disease and dystonia. Identification of the genetic defect in RDP holds promise for understanding the underlying disease processes of both of these more common diseases. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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