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

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.

• Authors: Roy N Alcalay, Helen Mejia-Santana, Ming X Tang, Brian Rakitin, Llency Rosado, Barbara Ross, Miguel Verbitsky, Sergey Kisselev, Elan D Louis, Cynthia L Comella, Amy Colcher, Danna Jennings, Martha A Nance, Susan Bressman, William K Scott, Caroline Tanner, Susan F Mickel, Howard F Andrews, Cheryl H Waters, Stanley Fahn, Lucien J Cote, Steven J Frucht, Blair Ford, Michael Rezak, Kevin Novak, Joseph H Friedman, Ronald Pfeiffer, Laura Marsh, Bradley Hiner, Andrew Siderowf, Ruth Ottman, Lorraine N Clark, Karen S Marder, Elise Caccappolo
• Journal: Journal of clinical and experimental neuropsychology (J Clin Exp Neuropsychol) Vol. 32 Issue 7 Pg. 775-9 (Aug 2010) ISSN: 1744-411X [Electronic] England
• PMID: 20182943 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Ubiquitin-Protein Ligases
• parkin protein
• LRRK2 protein, human
• Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
• Protein Serine-Threonine Kinases
• Glucosylceramidase

Topics

• Cognition Disorders (genetics, psychology)
• Glucosylceramidase (genetics)
• Heterozygote
• Humans
• Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
• Logistic Models
• Mutation (genetics, physiology)
• Neuropsychological Tests
• Parkinson Disease (genetics, psychology)
• Protein Serine-Threonine Kinases (genetics)
• Ubiquitin-Protein Ligases (genetics)