J 2011

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

JECH, Robert, Martin BAREŠ, Anna KŘEPELOVÁ, Dušan URGOŠÍK, Petra HAVRÁNKOVÁ et. al.

Basic information

Original name

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

Authors

JECH, Robert (203 Czech Republic, guarantor), Martin BAREŠ (203 Czech Republic, belonging to the institution), Anna KŘEPELOVÁ (203 Czech Republic), Dušan URGOŠÍK (203 Czech Republic), Petra HAVRÁNKOVÁ (203 Czech Republic) and Evžen RŮŽIČKA (203 Czech Republic)

Edition

Movement Disorders, 2011, 0885-3185

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30000 3. Medical and Health Sciences

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 4.505

RIV identification code

RIV/00216224:14110/11:00052318

Organization unit

Faculty of Medicine

DOI

UT WoS

000290445400060

Keywords in English

DYT 6-A Novel THAP1 Mutation Pallidal DBS

Tags

International impact
Změněno: 5/4/2012 15:53, Mgr. Michal Petr

Abstract

V originále

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.