000165272 001__ 165272
000165272 005__ 20250127111044.0
000165272 0247_ $$2doi$$a10.1111/ene.15584
000165272 0247_ $$2pmid$$apmid:36169607
000165272 0247_ $$2ISSN$$a1351-5101
000165272 0247_ $$2ISSN$$a1468-1331
000165272 0247_ $$2ISSN$$a1471-0552
000165272 0247_ $$2altmetric$$aaltmetric:136585921
000165272 037__ $$aDZNE-2022-01565
000165272 041__ $$aEnglish
000165272 082__ $$a610
000165272 1001_ $$0P:(DE-2719)9001677$$aXia, Kailin$$b0$$udzne
000165272 245__ $$aMutation-specific metabolic profiles in presymptomatic amyotrophic lateral sclerosis.
000165272 260__ $$aOxford$$bBlackwell Science$$c2023
000165272 3367_ $$2DRIVER$$aarticle
000165272 3367_ $$2DataCite$$aOutput Types/Journal article
000165272 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1708965560_5085
000165272 3367_ $$2BibTeX$$aARTICLE
000165272 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000165272 3367_ $$00$$2EndNote$$aJournal Article
000165272 500__ $$aISSN 1468-1331 not unique: **2 hits**.
000165272 520__ $$a Growing evidence shows that ALS patients feature a disturbed energy metabolism. However, these features have rarely been investigated in the presymptomatic stage.A total of 60 presymptomatic ALS mutation carriers and 70 age- and gender-matched controls (non-mutation carriers from the same families) were recruited. All subjects underwent assessments of their metabolic profiles under fasting conditions at enrollment, including body mass index (BMI), blood pressure and serum levels of blood glucose, total cholesterol, triglycerides, high-density lipoprotein (HDL) and low-density lipoprotein.All mutations combined, no differences between presymptomatic ALS gene carriers and controls were found. From a cardiovascular point of view, presymptomatic chromosome 9 open reading frame 72 (C9ORF72) gene carriers showed lower cardiovascular risk profiles compared to healthy controls, including lower BMI (median 22.9, interquartile range [IQR] 20.6-26.1 kg/m2 vs. 24.9, IQR 22.7-30.5 kg/m2 ; p = 0.007), lower systolic blood pressure (120, IQR 110-130 mmHg vs. 128, IQR 120-140 mmHg; p = 0.02), lower fasting serum glucose (89.0, IQR 85.0-97.0 mg/dl vs. 96.0, IQR 89.3-102.0 mg/dl; p = 0.005) and higher HDL (1.6, IQR 1.3-1.8 mmol/l vs. 1.2, IQR 1.0-1.4 mmol/l; p = 0.04). However, presymptomatic superoxide dismutase 1 (SOD1) gene mutation carriers showed higher cardiovascular risk profiles compared to healthy controls, including higher BMI (28.0, IQR 26.1-31.5 kg/m2 vs. 24.9, IQR 22.7-30.5 kg/m2 ; p = 0.02), higher fasting serum glucose (100.0, IQR 94.0-117.0 mg/dl vs. 96.0, IQR 89.3-102.0 mg/dl; p = 0.04) and lower HDL (1.2, IQR 1.0-1.4 mmol/l vs. 1.4, IQR 1.2-1.7 mmol/l; p = 0.01). These features were most prominent in patients carrying SOD1 gene mutations associated with slow disease progression.This study identified distinct metabolic profiles in presymptomatic ALS gene carriers, which might be associated with disease progression in the symptomatic phase.
000165272 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000165272 542__ $$2Crossref$$i2022-10-17$$uhttp://creativecommons.org/licenses/by-nc/4.0/
000165272 542__ $$2Crossref$$i2022-10-17$$uhttp://doi.wiley.com/10.1002/tdm_license_1.1
000165272 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000165272 650_7 $$2Other$$aAmyotrophic lateral sclerosis
000165272 650_7 $$2Other$$aGenetics
000165272 650_7 $$2Other$$aMetabolism
000165272 650_7 $$2Other$$aPresymptomatic Gene Carriers
000165272 650_2 $$2MeSH$$aHumans
000165272 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000165272 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000165272 650_2 $$2MeSH$$aBlood Glucose
000165272 650_2 $$2MeSH$$aDisease Progression
000165272 650_2 $$2MeSH$$aMetabolome
000165272 7001_ $$0P:(DE-2719)9001976$$aWitzel, Simon$$b1$$udzne
000165272 7001_ $$aWitzel, Christina$$b2
000165272 7001_ $$0P:(DE-2719)9001084$$aKlose, Veronika$$b3$$udzne
000165272 7001_ $$00000-0002-6679-0864$$aFan, Dongsheng$$b4
000165272 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert C$$b5$$eLast author$$udzne
000165272 7001_ $$0P:(DE-2719)9001951$$aDorst, Johannes$$b6$$udzne
000165272 77318 $$2Crossref$$3journal-article$$a10.1111/ene.15584$$bWiley$$d2022-10-17$$n1$$p87-95$$tEuropean Journal of Neurology$$v30$$x1351-5101$$y2022
000165272 773__ $$0PERI:(DE-600)2020241-6$$a10.1111/ene.15584$$gp. ene.15584$$n1$$p87-95$$tEuropean journal of neurology$$v30$$x1351-5101$$y2023
000165272 8564_ $$uhttps://pub.dzne.de/record/165272/files/DZNE-2022-01565.pdf$$yOpenAccess
000165272 8564_ $$uhttps://pub.dzne.de/record/165272/files/DZNE-2022-01565.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000165272 909CO $$ooai:pub.dzne.de:165272$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000165272 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9001677$$aExternal Institute$$b0$$kExtern
000165272 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9001976$$aExternal Institute$$b1$$kExtern
000165272 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9001084$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b3$$kDZNE
000165272 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812633$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b5$$kDZNE
000165272 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9001951$$aExternal Institute$$b6$$kExtern
000165272 9131_ $$0G:(DE-HGF)POF4-353$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vClinical and Health Care Research$$x0
000165272 9141_ $$y2022
000165272 915__ $$0LIC:(DE-HGF)CCBYNC4$$2HGFVOC$$aCreative Commons Attribution-NonCommercial CC BY-NC 4.0
000165272 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000165272 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bEUR J NEUROL : 2022$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2023-10-22
000165272 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bEUR J NEUROL : 2022$$d2023-10-22
000165272 9201_ $$0I:(DE-2719)5000077$$kClinical Study Center Ulm$$lClinical Study Center Ulm$$x0
000165272 9201_ $$0I:(DE-2719)1910005$$kAG Zhan$$lNeuroepidemiology$$x1
000165272 980__ $$ajournal
000165272 980__ $$aVDB
000165272 980__ $$aI:(DE-2719)5000077
000165272 980__ $$aI:(DE-2719)1910005
000165272 980__ $$aUNRESTRICTED
000165272 9801_ $$aFullTexts
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1111/ene.14393
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3389/fnins.2020.00042
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuron.2018.02.027
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(10)70224-6
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp.40.6.533
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3109/17482960902822960
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/01.wnl.0000285080.70324.27
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1620/tjem.139.365
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/ajcn/74.3.328
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.jns.2020.117257
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-009-5100-z
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/aje/kww140
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s10654-017-0318-z
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.53.5.1059
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp.2010.211474
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1096/fj.02-1182fje
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1001/archneurol.2010.128
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2017-315795
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/s40478-014-0171-1
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.25661
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2020-323372
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0140-6736(14)60222-1
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s10072-021-05099-0
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3389/fneur.2020.567753
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/mus.25547
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1194/jlr.M700017-JLR200
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.15252/emmm.201404433
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.0402026101
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3390/nu13072273
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.0000000000009322
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3389/fneur.2019.00191
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awr366
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1186/s40035-021-00266-x
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2016-313521
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/hmg/dds188
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuron.2004.06.021
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3390/ijms21186606
000165272 999C5 $$1Günther R$$2Crossref$$oGünther R 2022$$y2022
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-021-10716-1
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/aww004
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.expneurol.2005.07.020
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0005390
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.bbadis.2009.08.012
000165272 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.4103/0366-6999.172561