Informace o publikaci
DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS
| Autoři | |
|---|---|
| Rok publikování | 2011 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Movement Disorders |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | http://onlinelibrary.wiley.com/doi/10.1002/mds.23599/pdf |
| Doi | http://dx.doi.org/10.1002/mds.23599 |
| Obor | Neurologie, neurochirurgie, neurovědy |
| Klíčová slova | DYT 6-A Novel THAP1 Mutation Pallidal DBS |
| Popis | DYT6 is an early-onset dystonia caused by variable mutations of the gene encoding the thanatos-associated protein (THAP1).1 It usually starts in the cranial region or on the upper extremities with subsequent generalization. It has been reported that deep brain stimulation of the internal globus pallidus (GPi-DBS) has moderate or unsatisfactory effects in these patients.2,3 We describe a novel mutation of the THAP1 gene in 2 siblings (a boy and a girl) with a rapid generalization into a life-threatening status dystonicus (SD) in the boy. Unlike in the 7 previously reported patients,2,3 in his case, we observed excellent long-term effects from bilateral GPi-DBS. |