RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies

Kyndall Hodges; Sheridan S Brewer; Catherine Labbé; Alexandra I Soto-Ortolaza; Ronald L Walton; Audrey J Strongosky; Ryan J Uitti; Jay A van Gerpen; Nilüfer Ertekin-Taner; Kejal Kantarci; Val J Lowe; Joseph E Parisi; Rodolfo Savica; Jonathan Graff-Radford; David T Jones; David S Knopman; Ronald C Petersen; Melissa E Murray; Neill R Graff-Radford; Tanis J Ferman; Dennis W Dickson; Zbigniew K Wszolek; Bradley F Boeve; Owen A Ross; Oswaldo Lorenzo-Betancor

doi:10.1016/j.neurobiolaging.2016.03.021

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies

Neurobiol Aging. 2016 Sep:45:107-108. doi: 10.1016/j.neurobiolaging.2016.03.021. Epub 2016 Mar 24.

Authors

Kyndall Hodges¹, Sheridan S Brewer², Catherine Labbé², Alexandra I Soto-Ortolaza¹, Ronald L Walton², Audrey J Strongosky³, Ryan J Uitti³, Jay A van Gerpen³, Nilüfer Ertekin-Taner⁴, Kejal Kantarci⁵, Val J Lowe⁵, Joseph E Parisi⁶, Rodolfo Savica⁷, Jonathan Graff-Radford⁷, David T Jones⁸, David S Knopman⁷, Ronald C Petersen⁷, Melissa E Murray², Neill R Graff-Radford⁹, Tanis J Ferman¹⁰, Dennis W Dickson², Zbigniew K Wszolek³, Bradley F Boeve⁷, Owen A Ross¹¹, Oswaldo Lorenzo-Betancor¹²

Affiliations

¹ Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Biology, University of North Florida, Jacksonville, FL, USA.
² Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
³ Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
⁴ Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
⁵ Department of Radiology, Mayo Clinic, Rochester, MN, USA.
⁶ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
⁷ Department of Neurology, Mayo Clinic, Rochester, MN, USA.
⁸ Department of Radiology, Mayo Clinic, Rochester, MN, USA; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
⁹ Department of Biology, University of North Florida, Jacksonville, FL, USA.
¹⁰ Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA.
¹¹ Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Biology, University of North Florida, Jacksonville, FL, USA; Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL, USA.
¹² Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address: [email protected].

PMID: 27459931
PMCID: PMC5954832
DOI: 10.1016/j.neurobiolaging.2016.03.021

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.

Keywords: Dementia with Lewy bodies; Lewy body dementia; Parkinson's disease; RAB39B.

MeSH terms

Aged
Aged, 80 and over
Cohort Studies
Female
Genetic Association Studies*
Genetic Diseases, X-Linked / genetics*
Humans
Lewy Body Disease / genetics*
Male
Middle Aged
Mutation*
Parkinson Disease / genetics*
White People
rab GTP-Binding Proteins / genetics*

Substances

Rab39B protein, human
rab GTP-Binding Proteins

Abstract

MeSH terms

Substances

Grants and funding