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

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. FermanDennis W. Dickson, Zbigniew K. Wszolek, Bradley F. Boeve, Owen A. Ross, Oswaldo Lorenzo-Betancor

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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.

Original language	English (US)
Pages (from-to)	107-108
Number of pages	2
Journal	Neurobiology of aging
Volume	45
DOIs	https://doi.org/10.1016/j.neurobiolaging.2016.03.021
State	Published - Sep 1 2016

Keywords

Dementia with Lewy bodies
Lewy body dementia
Parkinson's disease
RAB39B

ASJC Scopus subject areas

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

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Hodges, K., Brewer, S. S., Labbé, C., Soto-Ortolaza, A. I., Walton, R. L., Strongosky, A. J., Uitti, R. J., van Gerpen, J. A., Ertekin-Taner, N., Kantarci, K., Lowe, V. J., Parisi, J. E., Savica, R., Graff-Radford, J., Jones, D. T., Knopman, D. S., Petersen, R. C., Murray, M. E., Graff-Radford, N. R., ... Lorenzo-Betancor, O. (2016). RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies. Neurobiology of aging, 45, 107-108. https://doi.org/10.1016/j.neurobiolaging.2016.03.021

Hodges, K, Brewer, SS, Labbé, C, Soto-Ortolaza, AI, Walton, RL, Strongosky, AJ, Uitti, RJ, van Gerpen, JA, Ertekin-Taner, N , Kantarci, K , Lowe, VJ, Parisi, JE, Savica, R , Graff-Radford, J , Jones, DT , Knopman, DS , Petersen, RC , Murray, ME , Graff-Radford, NR , Ferman, TJ , Dickson, DW , Wszolek, ZK , Boeve, BF , Ross, OA & Lorenzo-Betancor, O 2016, 'RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies', Neurobiology of aging, vol. 45, pp. 107-108. https://doi.org/10.1016/j.neurobiolaging.2016.03.021

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

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",

author = "Kyndall Hodges and Brewer, {Sheridan S.} and Catherine Labb{\'e} and Soto-Ortolaza, {Alexandra I.} and Walton, {Ronald L.} and Strongosky, {Audrey J.} and Uitti, {Ryan J.} and {van Gerpen}, {Jay A.} and Nil{\"u}fer Ertekin-Taner and Kejal Kantarci and Lowe, {Val J.} and Parisi, {Joseph E.} and Rodolfo Savica and Jonathan Graff-Radford and Jones, {David T.} and Knopman, {David S.} and Petersen, {Ronald C.} and Murray, {Melissa E.} and Graff-Radford, {Neill R.} and Ferman, {Tanis J.} and Dickson, {Dennis W.} and Wszolek, {Zbigniew K.} and Boeve, {Bradley F.} and Ross, {Owen A.} and Oswaldo Lorenzo-Betancor",

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year = "2016",

month = sep,

day = "1",

doi = "10.1016/j.neurobiolaging.2016.03.021",

language = "English (US)",

volume = "45",

pages = "107--108",

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AU - Hodges, Kyndall

AU - Brewer, Sheridan S.

AU - Labbé, Catherine

AU - Soto-Ortolaza, Alexandra I.

AU - Walton, Ronald L.

AU - Strongosky, Audrey J.

AU - Uitti, Ryan J.

AU - van Gerpen, Jay A.

AU - Ertekin-Taner, Nilüfer

AU - Kantarci, Kejal

AU - Lowe, Val J.

AU - Parisi, Joseph E.

AU - Savica, Rodolfo

AU - Graff-Radford, Jonathan

AU - Jones, David T.

AU - Knopman, David S.

AU - Petersen, Ronald C.

AU - Murray, Melissa E.

AU - Graff-Radford, Neill R.

AU - Ferman, Tanis J.

AU - Dickson, Dennis W.

AU - Wszolek, Zbigniew K.

AU - Boeve, Bradley F.

AU - Ross, Owen A.

AU - Lorenzo-Betancor, Oswaldo

PY - 2016/9/1

Y1 - 2016/9/1

N2 - 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.

AB - 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.

KW - Dementia with Lewy bodies

KW - Lewy body dementia

KW - Parkinson's disease

KW - RAB39B

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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