000281826 001__ 281826
000281826 005__ 20251113124306.0
000281826 0247_ $$2doi$$a10.1212/NXG.0000000000200319
000281826 0247_ $$2pmid$$apmid:41143127
000281826 0247_ $$2pmc$$apmc:PMC12552056
000281826 037__ $$aDZNE-2025-01207
000281826 041__ $$aEnglish
000281826 082__ $$a610
000281826 1001_ $$00000-0001-6827-0099$$aMuccioli, Lorenzo$$b0
000281826 245__ $$aNeurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.
000281826 260__ $$aMinneapolis, Minn.$$b[Verlag nicht ermittelbar]$$c2025
000281826 3367_ $$2DRIVER$$aarticle
000281826 3367_ $$2DataCite$$aOutput Types/Journal article
000281826 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1763033946_32671
000281826 3367_ $$2BibTeX$$aARTICLE
000281826 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000281826 3367_ $$00$$2EndNote$$aJournal Article
000281826 520__ $$aLafora disease (LD) is a severe, ultra-rare childhood-onset progressive myoclonus epilepsy caused by biallelic pathogenic variants in either EPM2A or NHLRC1 and currently without cure. Body fluid-derived biomarkers have remained largely unexplored in LD. Neurofilament light chain (NfL) levels in serum (sNfL) and CSF (cNfL) reflect ongoing neurodegeneration and have been established as prognostic and therapeutic biomarkers in various neurologic disorders. In this study, we assessed the utility of NfL as a biomarker of LD in a multicenter cohort of patients with LD.We conducted cross-sectional and longitudinal measurements of NfL levels in serum (n = 32) and CSF (n = 25) samples from a cohort of 31 patients with LD (26 independent families; mean age 21 years; age range 10.2-40.3; f:m = 16:15; EPM2A:NHLRC1 = 16:15) at diverse disease stages (median LD stage 2) and age-matched control participants with transient minor neurologic conditions (mean age 21.9 years; age range 11.1-41.3; f:m 22:8), treated at 3 referral centers in Ulm, Bologna, and Dallas. At each visit, we assessed LD stage (median LD stage 2; range 0-4) and LD clinical performance score (median score 10.5; range 0-18), allowing for correlation with NfL measurements.When compared with control participants (mean sNfL 7.72, 95% CI 6.79-8.65; mean cNfL 306.8, 95% CI 251.5-362.2), CSF and serum NfL levels were increased in patients with LD (mean sNfL 13.95, 95% CI 11.20-16.69; mean cNfL 576.9, 95% CI 465.3-688.5). cNfL values exhibited less variability than sNfL, resulting in superior discriminatory performance between those with LD and controls in receiver operating characteristic (ROC) analyses (AUC sNfL = 0.80; cNfL = 0.88). NfL levels tended to increase longitudinally when samples had been collected ≥12 months after baseline. sNfL levels correlated with both disease stage (r = 0.56) and LD Clinical Performance Scale score (r = -0.49), but not with disease duration (owing to genotype-dependent clinical heterogeneity).Our findings support the utility of NfL, particularly sNfL, as a promising biomarker of disease progression in LD. While further research is needed to fully elucidate the potential of NfL in this context, it holds immediate promise as an exploratory outcome measure in ongoing and future clinical trials.
000281826 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000281826 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000281826 7001_ $$00009-0002-3231-8622$$aGanceviciute, Bazile$$b1
000281826 7001_ $$00009-0000-2577-5580$$aBecker, Felicitas$$b2
000281826 7001_ $$00000-0002-8190-8517$$aMinardi, Raffaella$$b3
000281826 7001_ $$00000-0002-3397-6996$$aTappatà, Maria$$b4
000281826 7001_ $$00000-0003-1031-9966$$aBachhuber, Franziska$$b5
000281826 7001_ $$00000-0002-8294-8000$$aAlkhatib, Mahmoud$$b6
000281826 7001_ $$aCirak, Sebahattin$$b7
000281826 7001_ $$0P:(DE-2719)9000455$$aWeishaupt, Jochen H$$b8
000281826 7001_ $$00000-0003-0167-0842$$aVerma, Mayank$$b9
000281826 7001_ $$0P:(DE-2719)9002007$$aTumani, Hayrettin$$b10$$udzne
000281826 7001_ $$00000-0002-0459-8885$$aWagner, Jan$$b11
000281826 7001_ $$aMessahel, Souad$$b12
000281826 7001_ $$00000-0002-1118-2693$$aNitschke, Felix$$b13
000281826 7001_ $$00000-0002-9322-0189$$aMinassian, Berge A$$b14
000281826 7001_ $$00000-0002-1109-7296$$aBisulli, Francesca$$b15
000281826 7001_ $$0P:(DE-2719)9002137$$aBrenner, David$$b16$$eLast author
000281826 773__ $$0PERI:(DE-600)2818607-2$$a10.1212/NXG.0000000000200319$$gVol. 11, no. 6, p. e200319$$n6$$pe200319$$tNeurology / Genetics$$v11$$x2376-7839$$y2025
000281826 8564_ $$uhttps://pub.dzne.de/record/281826/files/DZNE-2025-01207.pdf$$yOpenAccess
000281826 8564_ $$uhttps://pub.dzne.de/record/281826/files/DZNE-2025-01207.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000281826 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000455$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b8$$kDZNE
000281826 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)9002007$$aExternal Institute$$b10$$kExtern
000281826 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9002137$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b16$$kDZNE
000281826 9131_ $$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$$x0
000281826 9141_ $$y2025
000281826 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2025-01-07
000281826 915__ $$0LIC:(DE-HGF)CCBYNCND4$$2HGFVOC$$aCreative Commons Attribution-NonCommercial-NoDerivs CC BY-NC-ND 4.0
000281826 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNEUROL-GENET : 2022$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2021-02-13T18:57:06Z
000281826 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2021-02-13T18:57:06Z
000281826 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000281826 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Anonymous peer review$$d2021-02-13T18:57:06Z
000281826 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2025-01-07
000281826 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2025-01-07
000281826 9201_ $$0I:(DE-2719)5000077$$kClinical Study Center (Ulm)$$lClinical Study Center (Ulm)$$x0
000281826 980__ $$ajournal
000281826 980__ $$aVDB
000281826 980__ $$aUNRESTRICTED
000281826 980__ $$aI:(DE-2719)5000077
000281826 9801_ $$aFullTexts