Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Ilda Coku Eugénie MutezSabiha EddarkaouiSébastien CarrierAntoine MarchandClaire DeldyckeLiesel GoveasGuillaume BailleMélissa Tir Romain Magnez Xavier ThuruGaëlle VermeerschWim Vandenberghe Luc Buee Luc Defebvre Bernard Sablonnière Marie-Christine Chartier-Harlin Jean-Marc Taymans Vincent Huin

Published in: Movement disorders : official journal of the Movement Disorder Society (2022)

We identified two novel LRRK2 variants which segregate with the disease. The results of functional testing lead us to propose these two variants as novel causative mutations for familial Parkinson's disease. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

copy number
early onset
randomized controlled trial
gene expression
genome wide