First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation.
"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 1-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.
Evidente
Virgilio Gerald H
VG
Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA. evidente.virgilio@mayo.edu
Lyons
Mark K
MK
Wheeler
Mark
M
Hillman
Renee
R
Helepolelei
Luann
L
Beynen
Froukje
F
Nolte
Dagmar
D
Müller
Ulrich
U
Starr
Philip A
PA
D004599:Electric Stimulation Therapy; D040181:Genetic Diseases, X-Linked / Q000473:pathology / Q000628:therapy*; D005917:Globus Pallidus / Q000503:physiopathology* / Q000528:radiation effects; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology / Q000628:therapy*