Analysis of common and rare VPS13C variants in late-onset Parkinson disease.

Uladzislau RudakouJennifer A RuskeyLynne KrohnSandra B LaurentDan SpiegelmanLior GreenbaumGilad YahalomAlex DesautelsJacques Y MontplaisirStanley FahnCheryl H WatersOren LevyCaitlin M KehoeSushma NarayanYves DauvilliersNicolas DupreSharon Hassin-BaerRoy N AlcalayGuy A RouleauEdward A Fon Ziv Gan Or

Published in: Neurology. Genetics (2020)

Our results do not support a role for rare heterozygous or biallelic VPS13C variants in LOPD. Additional genetic replication and functional studies are needed to examine the role of the haplotype identified here associated with reduced risk for PD.

Keyphrases

late onset
parkinson disease
early onset
copy number
deep brain stimulation
genome wide
intellectual disability
dna methylation
gene expression