title: Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) may serve as a model for Parkinson disease (PD) since many PKAN patients suffer from parkinsonism and both conditions lead to iron accumulation in the basal ganglia. We screened the gene coding for pantothenate kinase 2 (PANK2) for sequence variants in PD. We found no mutations in 67 PD patients with affected sibs or early-onset disease. Moreover, PANK2 polymorphisms were not associated with late-onset idiopathic PD in 339 patients. We conclude that PANK2 variants exert, if any, only a very small effect in the genetic risk of PD.
authors.affiliation: Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, 81377 Munich, Germany. thomas.klopstock@med.uni-muenchen.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Klopstock
authors.forename: Matthias
authors.initials: M
authors.lastname: Elstner
authors.forename: Christoph B
authors.initials: CB
authors.lastname: Lücking
authors.forename: Bertram
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Evelyn
authors.initials: E
authors.lastname: Botz
authors.forename: Peter
authors.initials: P
authors.lastname: Lichtner
authors.forename: Konstanze
authors.initials: K
authors.lastname: Hörtnagel
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase