title: Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with onset in childhood and rapid progression. There is no causative and insufficient symptomatic drug therapy. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been reported to improve motor function. Most case reports, however, are limited to short observational periods. The impact of DBS on the progression and life expectancy in PKAN is unknown. We present a 5-year outcome and video documentation of bilateral GPi-DBS of an adolescent patient suffering from genetically defined PKAN.
authors.affiliation: Department of Neurology, Ruprecht-Krals-University, INF 400, Heidelberg, Germany. martin_krause@med.uni-hedelberg.de
authors.forename: Martin
authors.initials: M
authors.lastname: Krause
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Fogel
authors.forename: Volker
authors.initials: V
authors.lastname: Tronnier
authors.forename: Sabine
authors.initials: S
authors.lastname: Pohle
authors.forename: Konstanze
authors.initials: K
authors.lastname: Hörtnagel
authors.forename: Ute
authors.initials: U
authors.lastname: Thyen
authors.forename: Jens
authors.initials: J
authors.lastname: Volkmann
mesh_terms: D000293:Adolescent; D046690:Deep Brain Stimulation / Q000379:methods*; D020821:Dystonic Disorders / Q000378:metabolism / Q000503:physiopathology / Q000601:surgery*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009410:Nerve Degeneration / Q000601:surgery*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000378:metabolism*; D013997:Time Factors
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase