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

Varování

Publikace nespadá pod Fakultu sportovních studií, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.

Autoři	JECH Robert BAREŠ Martin KŘEPELOVÁ Anna URGOŠÍK Dušan HAVRÁNKOVÁ Petra RŮŽIČKA Evžen
Rok publikování	2011
Druh	Článek v odborném periodiku
Časopis / Zdroj	Movement Disorders
Fakulta / Pracoviště MU	Lékařská fakulta
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.