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000154385 037__ $$aDZNE-2021-00238
000154385 041__ $$aEnglish
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000154385 1001_ $$0P:(DE-HGF)0$$aGreuel, Andrea$$b0
000154385 245__ $$aGBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes.
000154385 260__ $$aNew York, NY$$bWiley$$c2020
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000154385 520__ $$aAlterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage disorder Gaucher's disease. The GBA variants p.E365K and p.T408M are associated with PD but not with Gaucher's disease. The pathophysiological role of these variants needs to be further explored.This study analyzed clinical, neuropsychological, metabolic, and neuroimaging phenotypes of patients with PD carrying the GBA variants p.E365K and p.T408M.GBA was sequenced in 56 patients with mid-stage PD. Carriers of GBA variants were compared with noncarriers regarding clinical history and symptoms, neuropsychological features, metabolomics, and multimodal neuroimaging. Blood plasma gas chromatography coupled to mass spectrometry, 6-[18 F]fluoro-L-Dopa positron emission tomography (PET), [18 F]fluorodeoxyglucose PET, and resting-state functional magnetic resonance imaging were performed.Sequence analysis detected 13 heterozygous GBA variant carriers (7 with p.E365K, 6 with p.T408M). One patient carried a GBA mutation (p.N409S) and was excluded. Clinical history and symptoms were not significantly different between groups. Global cognitive performance was lower in variant carriers. Metabolomic group differences were suggestive of more severe PD-related alterations in carriers versus noncarriers. Both PET scans showed signs of a more advanced disease; [18 F]fluorodeoxyglucose PET and functional magnetic resonance imaging showed similarities with Lewy body dementia and PD dementia in carriers.This is the first study to comprehensively assess (neuro-)biological phenotypes of GBA variants in PD. Metabolomics and neuroimaging detected more significant group differences than clinical and behavioral evaluation. These alterations could be promising to monitor effects of disease-modifying treatments targeting glucocerebrosidase metabolism. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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000154385 650_7 $$2Other$$aGBA
000154385 650_7 $$2Other$$aParkinson's disease genetics
000154385 650_7 $$2Other$$ametabolomics
000154385 650_7 $$2Other$$amultimodal functional neuroimaging
000154385 650_2 $$2MeSH$$aGlucosylceramidase: genetics
000154385 650_2 $$2MeSH$$aHumans
000154385 650_2 $$2MeSH$$aMetabolomics
000154385 650_2 $$2MeSH$$aMutation: genetics
000154385 650_2 $$2MeSH$$aNeuroimaging
000154385 650_2 $$2MeSH$$aParkinson Disease: diagnostic imaging
000154385 650_2 $$2MeSH$$aParkinson Disease: genetics
000154385 650_2 $$2MeSH$$aPhenotype
000154385 7001_ $$aTrezzi, Jean-Pierre$$b1
000154385 7001_ $$aGlaab, Enrico$$b2
000154385 7001_ $$aRuppert, Marina C$$b3
000154385 7001_ $$0P:(DE-HGF)0$$aMaier, Franziska$$b4
000154385 7001_ $$aJäger, Christian$$b5
000154385 7001_ $$aHodak, Zdenka$$b6
000154385 7001_ $$0P:(DE-HGF)0$$aLohmann, Katja$$b7
000154385 7001_ $$aMa, Yilong$$b8
000154385 7001_ $$aEidelberg, David$$b9
000154385 7001_ $$aTimmermann, Lars$$b10
000154385 7001_ $$aHiller, Karsten$$b11
000154385 7001_ $$aTittgemeyer, Marc$$b12
000154385 7001_ $$0P:(DE-2719)2811239$$aDrzezga, Alexander$$b13$$udzne
000154385 7001_ $$aDiederich, Nico$$b14
000154385 7001_ $$aEggers, Carsten$$b15
000154385 773__ $$0PERI:(DE-600)2041249-6$$a10.1002/mds.28225$$gVol. 35, no. 12, p. 2201 - 2210$$n12$$p2201 - 2210$$tMovement disorders$$v35$$x1531-8257$$y2020
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