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

NEUROBIOLOGY OF AGING

卷:45

Article

Hodges, Kyndall^1,2  Brewer, Sheridan S.¹  Labbe, Catherine¹  Soto-Ortolaza, Alexandra I.^1,2  Walton, Ronald L.¹  Ertekin-Taner, Nilufer¹  Kantarci, Kejal⁴  Lowe, Val J.⁴  Parisi, Joseph E.^5,3  Savica, Rodolfo³  Graff-Radford, Jonathan³  Jones, David T.^4,3  Knopman, David S.³  Petersen, Ronald C.³  Murray, Melissa E.¹  Graff-Radford, Neill R.²  Ferman, Tanis J.⁶  Dickson, Dennis W.¹  Boeve, Bradley F.³  Ross, Owen A.^1,2,7  Lorenzo-Betancor, Oswaldo¹ 

[1] Mayo Clin, Dept Neurosci, 4500 San Pablo Rd, Jacksonville, FL 32224 USA

[2] Univ North Florida, Dept Biol, Jacksonville, FL USA

[3] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[4] Mayo Clin, Dept Radiol, Jacksonville, FL 32224 USA

[5] Mayo Clin, Dept Lab Med & Pathol, Jacksonville, FL 32224 USA

[6] Mayo Clin, Dept Psychiat & Psychol, Jacksonville, FL 32224 USA

[7] Mayo Clin, Neurobiol Dis, Mayo Grad Sch, Jacksonville, FL 32224 USA

关键词: Dementia with Lewy bodies;    Lewy body dementia;    RAB39B;    Parkinson's disease;   

DOI  :  10.1016/j.neurobiolaging.2016.03.021

来源: Elsevier

【 摘 要 】

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. (C) 2016 Elsevier Inc. All rights reserved.

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