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Nat Rev Neurol. 2013 Aug;9(8):445-54. doi: 10.1038/nrneurol.2013.132. Epub 2013 Jul 16.

Advances in the genetics of Parkinson disease.

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Department of Medical Genetics, UBC Pavillion Hospital, 2nd floor, Room S-132 Koerner Building, VCHRI, 2211 Wesbrook Mall, University of British Columbia, Vancouver, British Columbia V6T 2B5, Canada.


Parkinson disease (PD) is a multifactorial neurodegenerative disease that was long considered the result of environmental factors. In the past 15 years, however, a genetic aetiology for PD has begun to emerge. Here, we review results from linkage and next-generation sequencing studies of familial parkinsonism, as well as candidate gene and genome-wide association findings in sporadic PD. In these studies, many of the genetic findings overlap, despite different designs and study populations, highlighting novel therapeutic targets. The molecular results delineate a sequence of pathological events whereby deficits in synaptic exocytosis and endocytosis, endosomal trafficking, lysosome-mediated autophagy and mitochondrial maintenance increase susceptibility to PD. These discoveries provide the rationale, molecular insight and research tools to develop neuroprotective and disease-modifying therapies.

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