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

J Int Neuropsychol Soc. 2011 Jan;17(1):91-100. doi: 10.1017/S1355617710001190. Epub 2010 Nov 24.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Analysis of Variance
  • Attention / physiology
  • Cognition Disorders / etiology
  • Cognition Disorders / genetics*
  • Executive Function / physiology
  • Family Health
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genotype
  • Humans
  • Male
  • Memory / physiology
  • Middle Aged
  • Mutation / genetics*
  • Neuropsychological Tests
  • Parkinson Disease / complications
  • Parkinson Disease / genetics*
  • Retrospective Studies
  • Ubiquitin-Protein Ligases / genetics*
  • Visual Perception / physiology
  • Young Adult

Substances

  • Ubiquitin-Protein Ligases
  • parkin protein