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Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.
Neurosci. Lett. 379, 195-198 (2005)
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Pantothenate Kinase-associated Neurodegeneration ; Parkinson Disease
ISSN (print) / ISBN
0304-3940
e-ISSN
0304-3940
Zeitschrift
Neuroscience Letters
Quellenangaben
Band: 379,
Heft: 3,
Seiten: 195-198
Verlag
Elsevier
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)