Journal
NEUROLOGY
Volume 78, Issue 18, Pages 1434-1440Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e318253d54b
Keywords
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Categories
Funding
- NIH [NS036630, UL1 RR024156, NS050487, NS060113, NS36960, R01 NS043472, R01 NS036319, R01 NS036630, R03 NS065346, RC2 NS070344, R01 NS039422, R01 NS053998, NS36630, 1UL1 RR024156-01, PO412196-G]
- Parkinson's Disease Foundation [NS36960, P50 NS039764]
- Brookdale Leadership in Aging Fellowship
- Michael J. Fox Foundation
- NIH [NINDS] [R01 NS42859, R01 NS39422, R56 NS042859, T32 NS07153-24, R01 NS36630]
- NIH [NIA] [2P01 AG0027232-16]
- Medivation
- Santhera
- Neurosearch
- Juvantia
- Schwarcz
- Pfizer
- Neuraltus
- Impax
- CHDI
- NINDS [5 U10 NS044466-05, 5 RO1 NS36630, NS640068-08, 1RO1 NS052592-01]
- NHGRI/NINDS [501 HG 02449-07]
- NCCAM
- National Parkinson Foundation
- Huntington Disease Society of America
- Oxford University Press
- Department of Defense
- Muscular Dystrophy Association
- Brin Foundation
- James and Sharron Clark
- Parkinson's Institute and Clinical Center
- Welding Products Manufacturer's Group
- Smart Family Foundation
- US Department of Defense's Telemedicine and Advanced Technology Research Center (TATRC)
- Lundbeck
- Jazz Pharmaceuticals
- Merz
- Epivax
- Teva
- Cephalon
- EMD Serono
- Acadia
- United Biosource
- Clintara
- Demos Press
- CRC Press
- Humana Press
- Novartis
- Boehringer-Ingelheim
- UCB/Schwarz
- Spriggs Hollingsworth
- Davis Graham Stubbs
- Tucker Ellis West
- Acadia Pharmaceutical
- Ovation Pharmaceutical
- Merck Serono
- Forest Research Institute
- Eli Lilly
- Taylor and Francis/Informa
- Morris K. Udall Parkinson's Disease Research Center of Excellence from NINDS [NS-053488]
- Department of Health of the Commonwealth of Pennsylvania [SAP4100027296]
- Teva Neuroscience
- Supernus
- Pharmaceuticals
- Schering-Plough
- Riley Family Chair in Parkinson's Disease
- International League Against Epilepsy
- National Institute for Mental Health
- Coriell Institute for Medical Research
- Amarin Corporation
- NeuroSearch Sweden AB
- Huntington's Disease Society of America
- Parkinson Study Group
- [1 RO1 NS060118-01A1]
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Objective: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). Methods: We administered a neuropsychological battery and the University of Pennsylvania Smell Identification Test (UPSIT) to participants in the CORE-PD study who were tested for mutations in PARKIN, LRRK2, and GBA. Participants included 33 GBA mutation carriers and 60 noncarriers of any genetic mutation. Primary analyses were performed on 26 GBA heterozygous mutation carriers without additional mutations and 39 age- and PD duration-matched noncarriers. Five cognitive domains, psychomotor speed, attention, memory, visuospatial function, and executive function, were created from transformed z scores of individual neuropsychological tests. Clinical diagnoses (normal, mild cognitive impairment [MCI], dementia) were assigned blind to genotype based on neuropsychological performance and functional impairment as assessed by the Clinical Dementia Rating (CDR) score. The association between GBA mutation status and neuropsychological performance, CDR, and clinical diagnoses was assessed. Results: Demographics, UPSIT, and Unified Parkinson's Disease Rating Scale-III performance did not differ between GBA carriers and noncarriers. GBA mutation carriers performed more poorly than noncarriers on the Mini-Mental State Examination (p = 0.035), and on the memory (p = 0.017) and visuospatial (p = 0.028) domains. The most prominent differences were observed in nonverbal memory performance (p < 0.001). Carriers were more likely to receive scores of 0.5 or higher on the CDR (p < 0.001), and a clinical diagnosis of either MCI or dementia (p = 0.004). Conclusion: GBA mutation status may be an independent risk factor for cognitive impairment in patients with PD. Neurology (R) 2012;78:1434-1440
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