Publication details

DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS

Authors

JECH Robert BAREŠ Martin KŘEPELOVÁ Anna URGOŠÍK Dušan HAVRÁNKOVÁ Petra RŮŽIČKA Evžen

Year of publication 2011
Type Article in Periodical
Magazine / Source Movement Disorders
MU Faculty or unit

Faculty of Medicine

Citation
Web http://onlinelibrary.wiley.com/doi/10.1002/mds.23599/pdf
Doi http://dx.doi.org/10.1002/mds.23599
Field Neurology, neurosurgery, neurosciences
Keywords DYT 6-A Novel THAP1 Mutation Pallidal DBS
Description 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.

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