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Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease

2020-05-12 genetic and genomic medicine Title + abstract only
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BackgroundBiallelic PRKN mutation carriers with Parkinsons disease (PD) typically have an earlier disease onset, slow disease progression and, often, different neuropathology compared to sporadic PD patients. However, the role of heterozygous PRKN variants in the risk of PD is controversial. ObjectivesWe aimed to examine the association between heterozygous PRKN variants, including single nucleotide variants and copy-number variations, and PD. MethodsWe fully sequenced PRKN in 2,809 PD patient...

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