First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation

被引：51
作者：
Evidente, Virgilio Gerald H.
Lyons, Mark K.
Wheeler, Mark
Hillman, Renee
Helepolelei, Luann
Beynen, Froukje
Nolte, Dagmar
Mueller, Ulrich
Starr, Philip A.
机构：
[1] Mayo Clin, Dept Neurol, Scottsdale, AZ 85259 USA
[2] Mayo Clin, Dept Neurosurg, Scottsdale, AZ USA
[3] Mayo Clin, Dept Anesthesiol, Scottsdale, AZ USA
[4] Inst Human Genet, Giessen, Germany
[5] Univ San Francisco, Dept Neurosurg, San Francisco, CA 94117 USA
来源：
MOVEMENT DISORDERS | 2007年 / 22卷 / 12期
关键词：
Lubag; XDP; x-linked dystonia; x-linked dystonia parkinsonism; DYT3;
D O I：
10.1002/mds.21420
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Lubag or X-linked dystonia-parkinsonism (XDP) is a genetic syndrome afflicting Filipino men. Intracranial surgical procedures for Lubag have been unsuccessful. We report a 45-year-old Filipino male with genetically confirmed XDP who underwent bilateral pallidal deep brain stimulation (DBS) surgery. The patient started to exhibit improvement on initial programming, most notably of his severe jaw-opening dystonia. At I-year follow-up, his Burke-Fahn-Marsden dystonia score and motor Unified Parkinson's Disease Rating Scale score were improved by 71% and 62%, respectively, with the stimulators on compared to stimulators off state. Bilateral pallidal DBS may be a viable option for Lubag patients with medically refractory symptoms. (C) 2007 Movement Disorder Society.
引用
收藏
页码：1790 / 1793
页数：4
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