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Glucocerebrosidase Gene Mutation and Preclinical Markers of Parkinson Disease

Antonella Macerollo, MD1
[+] Author Affiliations
1Department of Basic Medical Sciences, Neuroscience and Sense Organs, Aldo Moro University of Bari, Bari, Italy
JAMA Neurol. 2015;72(6):723-724. doi:10.1001/jamaneurol.2015.0487.
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To the Editor In a study published in JAMA Neurology, Beavan et al1 reported a 2-year follow-up study of 30 patients with a diagnosis of type 1 Gaucher disease, 28 heterozygous glucocerebrosidase gene (GBA) mutation carriers, and 26 control individuals.1 It is well known that GBA mutations are a confirmed genetic risk for developing Parkinson disease (PD).2 Previously, Winder-Rhodes et al2 found that GBA mutations were present at a frequency of 3.5% in a UK PD population, confirming the important contribution of this gene in the clinical progression of PD. Indeed, the authors found that the hazard ratio for progression both to dementia and Hoehn and Yahr Scale stage 3 were significantly greater in GBA mutation carriers.2 In addition to confirming the well-established role of the GBA gene in PD, the study by Beavan et al1 emphasized the significant value of GBA mutations also in the prodromal motor and nonmotor features of PD. The authors went further by showing that those with Gaucher disease and heterozygous carriers exhibited worse scores of depression, rapid eye movement sleep behavior disorder, olfactory and cognitive assessment scores, and Unified Parkinson’s Disease Rating Scale part III scores. Notably, this study confirmed the results previously collected by the authors in the same cohort.3


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June 1, 2015
Michelle Beavan, MRCP(UK); Anthony H. V. Schapira, DSc, MD, FRCP, FMedSci
1Department of Clinical Neurosciences, UCL Institute of Neurology, University College London, London, England
JAMA Neurol. 2015;72(6):724. doi:10.1001/jamaneurol.2015.0484.
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