Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.

Nikolaos PapagiannakisHui LiuChristos KorosAthina-Maria SimitsiMaria StamelouMatina ManiatiElena Buena-AtienzaChrysoula KartanouGeorgia KaradimaPeriklis MakrythanasisGiannis VatsellasEnza Maria ValenteThomas GasserLeonidas Stefanis

Published in: Movement disorders : official journal of the Movement Disorder Society (2024)

Assessment of PRKN mRNA levels in PBMCs may be a useful way to screen for biallelic pathogenic variants in the PRKN gene. Suspicion for certain variants in a heterozygous state may also be raised based on low PRKN mRNA levels. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

copy number
high throughput
randomized controlled trial
intellectual disability
systematic review
genome wide
early onset
autism spectrum disorder
drug induced