Funding agencies: Wellcome Trust/MRC Joint Call in Neurodegeneration Award (WT089698).
Article first published online: 16 FEB 2012
Copyright © 2012 The Authors. Movement Disorders published by Wiley Periodicals, Inc., on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Volume 27, Issue 4, pages 526–532, April 2012
How to Cite
McNeill, A., Duran, R., Proukakis, C., Bras, J., Hughes, D., Mehta, A., Hardy, J., Wood, N. W. and Schapira, A. H.V. (2012), Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov. Disord., 27: 526–532. doi: 10.1002/mds.24945
Relevant conflicts of interest/financial disclosures: A.M. is funded by a UK Medical Research Council research training fellowship, and reports no conflicts. R.D. received a fellowship from Fundacion Martin Escudero, and reports no conflicts. C.P., J.B., D.H., and A.M. report no conflicts. J.H., N.W., and A.H.V.S. receive research support from the UK Medical Research Council and Wellcome Trust, and report no conflicts. Funding was given to the members of the UK Parkinson's Disease Consortium (UKPDC) are from the UCL/Institute of Neurology, the University of Sheffield, and the MRC Protein Phosphorylation Unit at the University of Dundee. The funder had no role in determining the design/conduct of the study/collection of data, analysis/interpretation of the results, or preparation/review/approval of manuscript. Full financial disclosures may be found in the online version of the article.
Re-use of this article is permitted in accordance with the Terms and Conditions set out at http://wileyonlinelibrary.com/onlineopen#OnlineOpen_Terms
- Issue published online: 4 APR 2012
- Article first published online: 16 FEB 2012
- Manuscript Accepted: 19 JAN 2012
- Manuscript Revised: 5 JAN 2012
- Manuscript Received: 24 AUG 2011
- Unknown funding agency
- Parkinson's disease;
- olfactory dysfunction;
- cognitive dysfunction
The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autonomic dysfunction. Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration. © 2012 The Authors. International Parkinson and Movement Disorder Society published by Wiley Periodicals, Inc.