RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies
Kyndall Hodges, Mayo Clinic in Jacksonville, Florida
Sheridan S. Brewer, Mayo Clinic in Jacksonville, Florida
Catherine Labbé, Mayo Clinic in Jacksonville, Florida
Alexandra I. Soto-Ortolaza, Mayo Clinic in Jacksonville, Florida
Ronald L. Walton, Mayo Clinic in Jacksonville, Florida
Audrey J. Strongosky, Mayo Clinic in Jacksonville, Florida
Ryan J. Uitti, Mayo Clinic in Jacksonville, Florida
Jay A. van Gerpen, Mayo Clinic in Jacksonville, Florida
Nilüfer Ertekin-Taner, Mayo Clinic in Jacksonville, Florida
Kejal Kantarci, Mayo Clinic
Val J. Lowe, Mayo Clinic
Joseph E. Parisi, Mayo Clinic
Rodolfo Savica, Mayo Clinic
Jonathan Graff-Radford, Mayo Clinic
David T. Jones, Mayo Clinic
David S. Knopman, Mayo Clinic
Ronald C. Petersen, Mayo Clinic
Melissa E. Murray, Mayo Clinic in Jacksonville, Florida
Neill R. Graff-Radford, University of North Florida
Tanis J. Ferman, Mayo Clinic in Jacksonville, Florida
Abstract
Mutations in Ras-related protein Rab-39B (RAB39B) gene have been linked to X-linked early-onset Parkinsonism with intellectual disabilities. The aim of this study was to address the genetic contribution of RAB39B to Parkinson's disease (PD), dementia with Lewy bodies (DLB), and pathologically confirmed Lewy body dementia (pLBD) cases. A cohort of 884 PD, 399 DLB, and 379 pLBD patients were screened for RAB39B mutations, but no coding variants were found, suggesting RAB39B mutations are not a common cause of PD, DLB, or pLBD in Caucasian population.
