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Original Articles

Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

Roy N. Alcalay Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Helen Mejia-Santana Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Ming X. Tang Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Brian Rakitin Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Llency Rosado Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Barbara Ross Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Miguel Verbitsky Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Sergey Kisselev Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Elan D. Louis Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA

Cynthia L. Comella Department of Neurology/Movement Disorder Section, Chicago, IL, USA

Amy Colcher Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, PA, USA

Danna Jennings The Institute for Neurodegenerative Disorders, New Haven, CT, USA

Martha A. Nance Struthers Parkinson's Center, Park Nicollet Clinic, Golden Valley, MN, USA

Susan Bressman The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, NY, USA; Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA

William K. Scott Dr. John T Macdonald Foundation, Department of Human Genetics, Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA

Caroline Tanner Parkinson's Institute, Sunnyvale, CA, USA

Susan F. Mickel Marshfield Clinic, Department of Neurology, Marshfield, WI, USA

Howard F. Andrews New York State Psychiatric Institute, Data Coordinating Center, New York, NY, USA

Cheryl H. Waters Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Stanley Fahn Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Lucien J. Cote Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Steven J. Frucht Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Blair Ford Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Michael Rezak Department of Neurology, NorthShore University Health System, Evanston, IL, USA; Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

Kevin Novak Department of Neurology, NorthShore University Health System, Evanston, IL, USA; Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

Joseph H. Friedman Parkinson's Disease and Movement Disorders Center of NeuroHealth, Warwick, RI, USA; Department of Clinical Neurosciences, The Warren Alpert School of Medicine of Brown University, Providence, RI, USA

Ronald Pfeiffer Department of Neurology, College of Medicine, University of Tennessee Health Science Center, Memphis, TN, USA

Laura Marsh Morris K. Udall Parkinson's Disease Research Center of Excellence, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neurology and Neurological Sciences Johns Hopkins University School of Medicine, Baltimore, MD, USA

Bradley Hiner Medical College of Wisconsin, Milwaukee, WI, USA

Andrew Siderowf Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, PA, USA

Ruth Ottman Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA; Division of Epidemiology, New York State Psychiatric Institute, New York, NY, USA

Lorraine N. Clark Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Center for Human Genetics, College of Physicians and Surgeons, Columbia University, New York, NY, USA

Karen S. Marder Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Psychiatry, Columbia University Medical Center, New York, NY, USA

Elise Caccappolo Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USACorrespondence[email protected]

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Abstract

While little is known about risk factors for cognitive impairment in early onset Parkinson disease (EOPD), postmortem studies have shown an association between dementia with Lewy bodies (DLB) and glucocerebrosidase (GBA) mutation. We compared Mini-Mental State Examination (MMSE) performance and self-reported cognitive impairment in 699 EOPD participants genotyped for mutations in parkin (PRKN), leucine-rich repeat kinase-2 (LRRK2), and GBA. Logistic regression was used to assess the association between reported cognitive impairment and MMSE score, as well as between GBA group membership and self-reported impairment and MMSE. GBA carriers reported more impairment, but MMSE performance did not differ among genetic groups. Detailed neuropsychological testing is required to explore the association between cognitive impairment and GBA mutations.

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Notes

This study was funded by NIH NS36630, UL1 RR024156 (K.S.M.), NS050487, NS060113 (L.N.C.), and the Parkinson's Disease Foundation (K.S.M., S.F., and L.N.C.). RNA was supported by a Parkinson's Disease Foundation H. Houston Merritt Fellowship in Movement Disorders. The authors thank Adam Brickman, Paul Greene, and Diana Ruiz for their assistance. Disclosure: The authors report no conflicts of interest.

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Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

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Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

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