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Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study

Published online by Cambridge University Press:  24 November 2010

Elise Caccappolo ,
Roy N. Alcalay ,
Helen Mejia-Santana ,
Ming-X. Tang ,
Brian Rakitin ,
Llency Rosado ,
Elan D. Louis ,
Cynthia L. Comella ,
Amy Colcher  and
Danna Jennings
...Show all authors
Elise Caccappolo
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
Roy N. Alcalay
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Helen Mejia-Santana
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Ming-X. Tang
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
Brian Rakitin
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
Llency Rosado
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Elan D. Louis
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York
Cynthia L. Comella
Affiliation:
Department of Neurology/Movement Disorder Section, Chicago, Illinois
Amy Colcher
Affiliation:
Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania
Danna Jennings
Affiliation:
The Institute for Neurodegenerative Disorders, New Haven, Connecticut
Martha A. Nance
Affiliation:
Struthers Parkinson's Center, Park Nicollet Clinic, Golden Valley, Minnesota
Susan Bressman
Affiliation:
The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York Department of Neurology, Albert Einstein College of Medicine, Bronx, New York
William K. Scott
Affiliation:
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida
Caroline M. Tanner
Affiliation:
Parkinson's Institute, Sunnyvale, California
Susan F. Mickel
Affiliation:
Marshfield Clinic, Department of Neurology, Marshfield, Wisconsin
Howard F. Andrews
Affiliation:
New York State Psychiatric Institute, Data Coordinating Center, New York, New York
Cheryl Waters
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Stanley Fahn
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Lucien J. Cote
Affiliation:
Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York
Steven Frucht
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Blair Ford
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Michael Rezak
Affiliation:
Department of Neurology, at North Shore University Health System, Evanston, Illinois Department of Neurology, at Northwestern University, Feinberg School of Medicine, Chicago, Illinois
Kevin Novak
Affiliation:
Department of Neurology, at North Shore University Health System, Evanston, Illinois Department of Neurology, at Northwestern University, Feinberg School of Medicine, Chicago, Illinois
Joseph H. Friedman
Affiliation:
Parkinson's Disease and Movement Disorders Center of NeuroHealth, Warwick, Rhode Island Department of Clinical Neurosciences, The Warren Alpert School of Medicine of Brown University, Providence, Rhode Island
Ronald F. Pfeiffer
Affiliation:
Department of Neurology, College of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee
Laura Marsh
Affiliation:
Morris K. Udall Parkinson's Disease Research Center of Excellence, Johns Hopkins University School of Medicine, Baltimore, Maryland Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine, Baltimore, Maryland Department of Neurology and Neurological Sciences Johns Hopkins University School of Medicine, Baltimore, Maryland
Brad Hiner
Affiliation:
Medical College of Wisconsin, Milwaukee, Wisconsin
Andrew D. Siderowf
Affiliation:
Department of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania
Barbara M. Ross
Affiliation:
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
Miguel Verbitsky
Affiliation:
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
Sergey Kisselev
Affiliation:
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York
Ruth Ottman
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York Division of Epidemiology, New York State Psychiatric Institute, New York, NY
Lorraine N. Clark
Affiliation:
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York
Karen S. Marder*
Affiliation:
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, New York Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York Department of Psychiatry, Columbia University Medical Center, New York, New York
*
Correspondence and reprint request to: Karen Marder, MD, MPH, 630 W 168th St., Unit 16, New York New York 10032. E-mail: ksm1@columbia.edu
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Abstract

The cognitive profile of early onset Parkinson’s disease (EOPD) has not been clearly defined. Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers. EOPD probands and their first-degree relatives who did not have Parkinson’s disease (PD) were genotyped for mutations in the parkin gene and administered a comprehensive neuropsychological battery. Performance was compared between EOPD probands with (N = 43) and without (N = 52) parkin mutations. The same neuropsychological battery was administered to 217 first-degree relatives to assess neuropsychological function in individuals who carry parkin mutations but do not have PD. No significant differences in neuropsychological test performance were found between parkin carrier and noncarrier probands. Performance also did not differ between EOPD noncarriers and carrier subgroups (i.e., heterozygotes, compound heterozygotes/homozygotes). Similarly, no differences were found among unaffected family members across genotypes. Mean neuropsychological test performance was within normal range in all probands and relatives. Carriers of parkin mutations, whether or not they have PD, do not perform differently on neuropsychological measures as compared to noncarriers. The cognitive functioning of parkin carriers over time warrants further study. (JINS, 2011, 17, 1–10)

Keywords

Parkinson’s diseaseGeneticsNeuropsychological assessmentGenotypePARK2Parkin mutation
Type
Research Articles
Information
Journal of the International Neuropsychological Society , Volume 17 , Issue 1 , January 2011 , pp. 91 - 100
Copyright
Copyright © The International Neuropsychological Society 2010

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