Significance of the parkin and PINK1gene in Jordanian families with incidences of young-onset and juvenile parkinsonism |
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| Authors: | Ronny Myhre Stina Steinkjer Alice Stormyr Gina L Nilsen Hiba Abu Zayyad Khalid Horany Mohamad K Nusier Helge Klungland |
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| Affiliation: | (1) Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology, N-7006 Trondheim, Norway;(2) Department of Biochemistry and Molecular Biology, Faculty of Medicine, Jordan University of Science and Technology, 22110 Irbid, Jordan;(3) Department of Neurology, King Hussein Medical Centre, Royal Medical Services, Amman, 11821, Jordan |
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| Abstract: | Background Parkinson's disease is a progressive neurodegenerative disorder, where most cases are sporadic with a late onset. In rare incidences familial forms of early-onset parkinsonism occur, and when recessively inherited, cases are often explained by mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on exceptional occasions the DJ-1 (PARK7) or ATP13A2 (PARK9) gene. Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism. |
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