guest ::
| Home > Publications Database > GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes. > print |
| Home > Publications Database > GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes. > print |
| 001 | 154385 | ||
| 005 | 20240320115506.0 | ||
| 024 | 7 | _ | |a 10.1002/mds.28225 |2 doi |
| 024 | 7 | _ | |a pmid:32853481 |2 pmid |
| 024 | 7 | _ | |a 0885-3185 |2 ISSN |
| 024 | 7 | _ | |a 1531-8257 |2 ISSN |
| 024 | 7 | _ | |a altmetric:88989923 |2 altmetric |
| 037 | _ | _ | |a DZNE-2021-00238 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Greuel, Andrea |0 P:(DE-HGF)0 |b 0 |
| 245 | _ | _ | |a GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes. |
| 260 | _ | _ | |a New York, NY |c 2020 |b Wiley |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1617290535_15299 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a ISSN 1531-8257 not unique: **3 hits**. |
| 520 | _ | _ | |a Alterations 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. |
| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
| 650 | _ | 7 | |a GBA |2 Other |
| 650 | _ | 7 | |a Parkinson's disease genetics |2 Other |
| 650 | _ | 7 | |a metabolomics |2 Other |
| 650 | _ | 7 | |a multimodal functional neuroimaging |2 Other |
| 650 | _ | 2 | |a Glucosylceramidase: genetics |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Metabolomics |2 MeSH |
| 650 | _ | 2 | |a Mutation: genetics |2 MeSH |
| 650 | _ | 2 | |a Neuroimaging |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: diagnostic imaging |2 MeSH |
| 650 | _ | 2 | |a Parkinson Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Phenotype |2 MeSH |
| 700 | 1 | _ | |a Trezzi, Jean-Pierre |b 1 |
| 700 | 1 | _ | |a Glaab, Enrico |b 2 |
| 700 | 1 | _ | |a Ruppert, Marina C |b 3 |
| 700 | 1 | _ | |a Maier, Franziska |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Jäger, Christian |b 5 |
| 700 | 1 | _ | |a Hodak, Zdenka |b 6 |
| 700 | 1 | _ | |a Lohmann, Katja |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a Ma, Yilong |b 8 |
| 700 | 1 | _ | |a Eidelberg, David |b 9 |
| 700 | 1 | _ | |a Timmermann, Lars |b 10 |
| 700 | 1 | _ | |a Hiller, Karsten |b 11 |
| 700 | 1 | _ | |a Tittgemeyer, Marc |b 12 |
| 700 | 1 | _ | |a Drzezga, Alexander |0 P:(DE-2719)2811239 |b 13 |u dzne |
| 700 | 1 | _ | |a Diederich, Nico |b 14 |
| 700 | 1 | _ | |a Eggers, Carsten |b 15 |
| 773 | _ | _ | |a 10.1002/mds.28225 |g Vol. 35, no. 12, p. 2201 - 2210 |0 PERI:(DE-600)2041249-6 |n 12 |p 2201 - 2210 |t Movement disorders |v 35 |y 2020 |x 1531-8257 |
| 856 | 4 | _ | |y OpenAccess |u https://pub.dzne.de/record/154385/files/mds.28225.pdf |
| 856 | 4 | _ | |y OpenAccess |x pdfa |u https://pub.dzne.de/record/154385/files/mds.28225.pdf?subformat=pdfa |
| 909 | C | O | |o oai:pub.dzne.de:154385 |p openaire |p open_access |p VDB |p driver |p dnbdelivery |
| 910 | 1 | _ | |a Deutsches Zentrum für Neurodegenerative Erkrankungen |0 I:(DE-588)1065079516 |k DZNE |b 13 |6 P:(DE-2719)2811239 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Erkrankungen des Nervensystems |1 G:(DE-HGF)POF3-340 |0 G:(DE-HGF)POF3-344 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-300 |4 G:(DE-HGF)POF |v Clinical and Health Care Research |x 0 |
| 913 | 2 | _ | |a DE-HGF |b Programmungebundene Forschung |l ohne Programm |1 G:(DE-HGF)POF4-890 |0 G:(DE-HGF)POF4-899 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-800 |4 G:(DE-HGF)POF |v ohne Topic |x 0 |
| 914 | 1 | _ | |y 2020 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2022-11-11 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2022-11-11 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |d 2022-11-11 |
| 915 | _ | _ | |a Creative Commons Attribution CC BY 4.0 |0 LIC:(DE-HGF)CCBY4 |2 HGFVOC |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2022-11-11 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b MOVEMENT DISORD : 2021 |d 2022-11-11 |
| 915 | _ | _ | |a DEAL Wiley |0 StatID:(DE-HGF)3001 |2 StatID |d 2021-01-30 |w ger |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2021-01-30 |
| 915 | _ | _ | |a OpenAccess |0 StatID:(DE-HGF)0510 |2 StatID |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2022-11-11 |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2022-11-11 |
| 915 | _ | _ | |a IF >= 5 |0 StatID:(DE-HGF)9905 |2 StatID |b MOVEMENT DISORD : 2021 |d 2022-11-11 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2021-01-30 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |d 2022-11-11 |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |d 2022-11-11 |w ger |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2022-11-11 |
| 920 | 1 | _ | |0 I:(DE-2719)1011202 |k AG Boecker |l Positron Emissions Tomography (PET) |x 0 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a UNRESTRICTED |
| 980 | _ | _ | |a I:(DE-2719)1011202 |
| 980 | 1 | _ | |a FullTexts |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|