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@article{938400,
author = {Jech, Robert and Bareš, Martin and Křepelová, Anna and Urgošík, Dušan and Havránková, Petra and Růžička, Evžen},
article_number = {5},
doi = {http://dx.doi.org/10.1002/mds.23599},
keywords = {DYT 6-A Novel THAP1 Mutation Pallidal DBS},
language = {eng},
issn = {0885-3185},
journal = {Movement Disorders},
title = {DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS},
url = {http://onlinelibrary.wiley.com/doi/10.1002/mds.23599/pdf},
volume = {26},
year = {2011}
}
TY - JOUR
ID - 938400
AU - Jech, Robert - Bareš, Martin - Křepelová, Anna - Urgošík, Dušan - Havránková, Petra - Růžička, Evžen
PY - 2011
TI - DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS
JF - Movement Disorders
VL - 26
IS - 5
SP - 924-925
EP - 924-925
SN - 08853185
KW - DYT 6-A Novel THAP1 Mutation Pallidal DBS
UR - http://onlinelibrary.wiley.com/doi/10.1002/mds.23599/pdf
N2 - 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.
ER -
JECH, Robert, Martin BAREŠ, Anna KŘEPELOVÁ, Dušan URGOŠÍK, Petra HAVRÁNKOVÁ and Evžen RŮŽIČKA. DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS. \textit{Movement Disorders}. 2011, vol.~26, No~5, p.~924-925. ISSN~0885-3185. Available from: https://dx.doi.org/10.1002/mds.23599.
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