| First Author | Ichinose H | Year | 1994 |
| Journal | Nat Genet | Volume | 8 |
| Issue | 3 | Pages | 236-42 |
| PubMed ID | 7874165 | Mgi Jnum | J:47374 |
| Mgi Id | MGI:1271052 | Doi | 10.1038/ng1194-236 |
| Citation | Ichinose H, et al. (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene [see comments]. Nat Genet 8(3):236-42 |
| abstractText | Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzyme's activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias. |
