title: Pallidal stimulation improves pantothenate kinase-associated neurodegeneration.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN who obtained a major and long-lasting improvement of their painful spasms, dystonia, and functional autonomy. This study shows the benefits of pallidal DBS for the dystonia of PKAN patients.
authors.affiliation: Pediatric Neurology and Institut National de la Sante et de la Recherche Médicale UB19 Hôpital Gatien de Clocheville, Centre Hospitalo-Universitaire, Tours, France 619.
authors.forename: Pierre
authors.initials: P
authors.lastname: Castelnau
authors.forename: Laura
authors.initials: L
authors.lastname: Cif
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Nathalie
authors.initials: N
authors.lastname: Vayssiere
authors.forename: Simone
authors.initials: S
authors.lastname: Hemm
authors.forename: Amandine
authors.initials: A
authors.lastname: Gannau
authors.forename: Annalisa
authors.initials: A
authors.lastname: Digiorgio
authors.forename: Philippe
authors.initials: P
authors.lastname: Coubes
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001479:Basal Ganglia / Q000473:pathology; D046690:Deep Brain Stimulation; D004421:Dystonia / Q000209:etiology / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D005917:Globus Pallidus / Q000502:physiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000628:therapy*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D013035:Spasm / Q000209:etiology / Q000628:therapy; D013238:Stereotaxic Techniques; D016896:Treatment Outcome
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase