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000153278 037__ $$aDZNE-2020-01275
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000153278 1001_ $$0P:(DE-2719)2814101$$aWilke, Carlo$$b0$$eFirst author$$udzne
000153278 245__ $$aNeurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
000153278 260__ $$aHeidelberg$$bEMBO Press$$c2020
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000153278 520__ $$aWith molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA3), easily accessible, cross‐species validated biomarkers for human and preclinical trials are warranted, particularly for the preataxic disease stage. We assessed serum levels of neurofilament light (NfL) and phosphorylated neurofilament heavy (pNfH) in ataxic and preataxic subjects of two independent multicentric SCA3 cohorts and in a SCA3 knock‐in mouse model. Ataxic SCA3 subjects showed increased levels of both NfL and pNfH. In preataxic subjects, NfL levels increased with proximity to the individual expected onset of ataxia, with significant NfL elevations already 7.5 years before onset. Cross‐sectional NfL levels correlated with both disease severity and longitudinal disease progression. Blood NfL and pNfH increases in human SCA3 were each paralleled by similar changes in SCA3 knock‐in mice, here also starting already at the presymptomatic stage, closely following ataxin‐3 aggregation and preceding Purkinje cell loss in the brain. Blood neurofilaments, particularly NfL, might thus provide easily accessible, cross‐species validated biomarkers in both ataxic and preataxic SCA3, associated with earliest neuropathological changes, and serve as progression, proximity‐to‐onset and, potentially, treatment‐response markers in both human and preclinical SCA3 trials.
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000153278 650_2 $$2MeSH$$aAnimals
000153278 650_2 $$2MeSH$$aBiomarkers: blood
000153278 650_2 $$2MeSH$$aCross-Sectional Studies
000153278 650_2 $$2MeSH$$aFemale
000153278 650_2 $$2MeSH$$aHumans
000153278 650_2 $$2MeSH$$aIntermediate Filaments: chemistry
000153278 650_2 $$2MeSH$$aMachado-Joseph Disease: blood
000153278 650_2 $$2MeSH$$aMale
000153278 650_2 $$2MeSH$$aMice
000153278 650_2 $$2MeSH$$aProdromal Symptoms
000153278 650_2 $$2MeSH$$aSeverity of Illness Index
000153278 693__ $$0EXP:(DE-2719)ESMI-20140101$$5EXP:(DE-2719)ESMI-20140101$$eEuropean Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative$$x0
000153278 7001_ $$aHaas, Eva$$b1
000153278 7001_ $$aReetz, Kathrin$$b2
000153278 7001_ $$0P:(DE-HGF)0$$aFaber, Jennifer$$b3
000153278 7001_ $$aGarcia‐Moreno, Hector$$b4
000153278 7001_ $$aSantana, Magda M$$b5
000153278 7001_ $$aWarrenburg, Bart$$b6
000153278 7001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b7$$udzne
000153278 7001_ $$aLima, Manuela$$b8
000153278 7001_ $$aFilla, Alessandro$$b9
000153278 7001_ $$0P:(DE-HGF)0$$aDurr, Alexandra$$b10
000153278 7001_ $$aMelegh, Bela$$b11
000153278 7001_ $$aMasciullo, Marcella$$b12
000153278 7001_ $$aInfante, Jon$$b13
000153278 7001_ $$aGiunti, Paola$$b14
000153278 7001_ $$0P:(DE-2719)2810592$$aNeumann, Manuela$$b15$$udzne
000153278 7001_ $$aVries, Jeroen$$b16
000153278 7001_ $$00000-0001-5831-3307$$aPereira de Almeida, Luis$$b17
000153278 7001_ $$aRakowicz, Maria$$b18
000153278 7001_ $$0P:(DE-HGF)0$$aJacobi, Heike$$b19
000153278 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b20$$udzne
000153278 7001_ $$0P:(DE-2719)9000387$$aKaeser, Stephan A$$b21$$udzne
000153278 7001_ $$aKuhle, Jens$$b22
000153278 7001_ $$0P:(DE-HGF)0$$aKlockgether, Thomas$$b23
000153278 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b24$$udzne
000153278 7001_ $$aBarro, Christian$$b25
000153278 7001_ $$aHübener‐Schmid, Jeannette$$b26
000153278 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b27$$udzne
000153278 7001_ $$0P:(DE-HGF)0$$aDeuschle, Christian$$b28
000153278 7001_ $$0P:(DE-HGF)0$$aStransky, Elke$$b29
000153278 7001_ $$0P:(DE-HGF)0$$aBrockmann, Kathrin$$b30
000153278 7001_ $$aSchulz, Jörg B$$b31
000153278 7001_ $$aBaliko, Laszlo$$b32
000153278 7001_ $$aGaalen, Judith$$b33
000153278 7001_ $$aRaposo, Mafalda$$b34
000153278 7001_ $$aJeromin, Andreas$$b35
000153278 773__ $$0PERI:(DE-600)2485479-7$$a10.15252/emmm.201911803$$gVol. 12, no. 7$$n7$$pe11803$$tEMBO molecular medicine$$v12$$x1757-4684$$y2020
000153278 8564_ $$uhttps://www.embopress.org/doi/full/10.15252/emmm.201911803
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