Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
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.
Klopstock
Thomas
T
Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, 81377 Munich, Germany. thomas.klopstock@med.uni-muenchen.de
Elstner
Matthias
M
Lücking
Christoph B
CB
Müller-Myhsok
Bertram
B
Gasser
Thomas
T
Botz
Evelyn
E
Lichtner
Peter
P
Hörtnagel
Konstanze
K
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
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase