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Klopstock, T.* ; Elstner, M.* ; Lücking, C.B.* ; Müller-Myhsok, B.* ; Gasser, T.* ; Botz, E. ; Lichtner, P. ; Hörtnagel, K.

Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.

Neurosci. Lett. 379, 195-198 (2005)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Keywords Pantothenate Kinase-associated Neurodegeneration ; Parkinson Disease
ISSN (print) / ISBN 0304-3940
e-ISSN 0304-3940
Quellenangaben Volume: 379, Issue: 3, Pages: 195-198 Article Number: , Supplement: ,
Publisher Elsevier
Reviewing status Peer reviewed