Neuropsychological profile of parkin mutation carriers with and without parkinson disease: The CORE-PD study

Elise Caccappolo, Roy N. Alcalay, Helen Mejia-Santana, Ming X. Tang, Brian Rakitin, Llency Rosado, Elan D. Louis, Cynthia L. Comella, Amy Colcher, Danna Jennings, Martha A. Nance, Susan Bressman, William K. Scott, Caroline M. Tanner, Susan F. Mickel, Howard F. Andrews, Cheryl Waters, Stanley Fahn, Lucien J. Cote, Steven FruchtBlair Ford, Michael Rezak, Kevin Novak, Joseph H. Friedman, Ronald F. Pfeiffer, Laura Marsh, Brad Hiner, Andrew D. Siderowf, Barbara M. Ross, Miguel Verbitsky, Sergey Kisselev, Ruth Ottman, Lorraine N. Clark, Karen S. Marder

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


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, 91-100)

Original languageEnglish (US)
Pages (from-to)91-100
Number of pages10
JournalJournal of the International Neuropsychological Society
Issue number1
StatePublished - Jan 2011
Externally publishedYes


  • Genetics
  • Genotype
  • Neuropsychological assessment
  • PARK2
  • Parkin mutation
  • Parkinson's disease

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Psychology
  • Clinical Neurology
  • Psychiatry and Mental health


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