Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease
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Updated: Aug 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Thomas Klopstock1, Matthias Elstner, Christoph B Lücking
1Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, 81377 Munich, Germany. thomas.klopstock@med.uni-muenchen.de
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.
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