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

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• 作者：Kyndall Hodges^a ; ^b ; ¹ ; Sheridan S. Brewer^a ; ¹ ; Catherine Labb&eacute ; ^a ; Alexandra I. Soto-Ortolaza^a ; ^b ; Ronald L. Walton^a ; Audrey J. Strongosky^c ; Ryan J. Uitti^c ; Jay A. van Gerpen^c ; Nilü ; fer Ertekin-Taner^a ; ^c ; Kejal Kantarci^d ; Val J. Lowe^d ; Joseph E. Parisi^e ; ^f ; Rodolfo Savica^f ; Jonathan Graff-Radford^f ; David T. Jones^d ; ^f ; David S. Knopman^f ; Ronald C. Petersen^f ; Melissa E. Murray^a ; Neill R. Graff-Radford^b ; Tanis J. Ferman^g ; Dennis W. Dickson^a ; Zbigniew K. Wszolek^c ; Bradley F. Boeve^f ; Owen A. Ross^a ; ^b ; ^h ; Oswaldo Lorenzo-Betancor^a ; ^{lorenzobetancor.oswaldo@mayo.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Dementia with Lewy bodies ; Lewy body dementia ; RAB39B ; Parkinson's disease
• 刊名：Neurobiology of Aging
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：45
• 期：Complete
• 页码：107-108
• 全文大小：185 K

文摘

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.