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

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Journal of Clinical and Experimental Neuropsychology (Impact Factor: 2.08). 02/2010; 32(7):775-9. DOI: 10.1080/13803390903521018
Source: PubMed


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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    • "We posit that the significantly better performance of the GD only group is because of a sensory mechanism rather than because of better cognitive function than that of the other groups. Bearing in mind that in addition to visual acuity (which was not impaired in any of the participants), color discrimination may be influenced by cognitive function which in patients with GD+PD may be among the first and most notable functions to be affected [19] [23] [26], it is instructive that GD only patients performed better than the GBA carriers without PD, and that both the sub-groups of GD+PD and GBA carriers+PD performed better than the PD only group on virtually all outcome measures. Thus, these comparisons putatively control to some extent for the possible confounding effects of cognitive function both intra-and inter-group, by comparing persons with GD with each other and carriers of GBA mutations with each other. "
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