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000282906 1001_ $$00009-0008-1643-0079$$aSchmitt, Philipp$$b0
000282906 245__ $$aMotor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program.
000282906 260__ $$a[Darmstadt]$$bSteinkopff$$c2025
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000282906 520__ $$aIn genetic amyotrophic lateral sclerosis (ALS), the clinical phenotypes, disease progression and neurofilament light chain (NfL) levels are incompletely characterized.In a total cohort of 1988 ALS patients, a subcohort of genetic ALS linked to C9orf72 (n = 137), SOD1 (n = 54), TARDBP (n = 27), and FUS (n = 19) was investigated. The phenotypes of onset region, propagation and motor neuron involvement were analyzed according to the OPM classification. Serum NfL (sNfL) was measured and related to ALS progression (ALSPR, monthly change of ALS Functional Rating Scale-Revised). To quantify NfL elevation relative to ALSPR, the logNfL(index), the log-transformed ratio of sNfL to ALSPR was calculated.C9orf72-associated ALS showed frequent bulbar onset (n = 42.6%), higher ALSPR (0.95, SD 0.84), highest NfL (116.3, SD 72.7 pg/mL) and logNfL(index) (5.02, SD 0.88). SOD1-ALS had mostly limb onset (n = 96.1%), slower ALSPR (0.57, SD 0.60), high NfL (76.1, SD 61.4 pg/mL) and a comparably high logNfL(index) (4.94, SD 1.03). FUS-ALS exhibited mostly limb onset (82.4%), lower motor neuron dysfunction (70.6%), a wide range of faster (22.2%) to slower ALSPR (55.6%), lower NfL (66.2, SD 32.9) and logNfL(4.65, SD 0.9). TARDBP-ALS displayed the lowest ALSPR (0.53, SD 0.52), the lowest NfL (43.3, SD 31.8 pg/mL) and the lowest logNfL(index) (4.40, SD 0.7).In C9orf72-ALS, the phenotype and NfL profile are close to typical ALS. The finding of distinct phenotypes and NfL patterns in SOD1-, FUS- and TARDBP-associated ALS underscores the relevance of genetic ALS for prognostic counseling, clinical trial design, treatment expectations and unraveling of pathogenic mechanisms in ALS.
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000282906 650_7 $$2Other$$aALS progression
000282906 650_7 $$2Other$$aGenetic ALS
000282906 650_7 $$2Other$$aNeurofilament
000282906 650_7 $$2Other$$aPhenotype
000282906 650_7 $$2NLM Chemicals$$aNeurofilament Proteins
000282906 650_7 $$2NLM Chemicals$$aneurofilament protein L
000282906 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000282906 650_7 $$2NLM Chemicals$$aC9orf72 protein, human
000282906 650_7 $$2NLM Chemicals$$aRNA-Binding Protein FUS
000282906 650_7 $$0EC 1.15.1.1$$2NLM Chemicals$$aSuperoxide Dismutase-1
000282906 650_7 $$2NLM Chemicals$$aTARDBP protein, human
000282906 650_7 $$2NLM Chemicals$$aFUS protein, human
000282906 650_7 $$2NLM Chemicals$$aSOD1 protein, human
000282906 650_7 $$2NLM Chemicals$$aDNA-Binding Proteins
000282906 650_2 $$2MeSH$$aHumans
000282906 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000282906 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: blood
000282906 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: physiopathology
000282906 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: diagnosis
000282906 650_2 $$2MeSH$$aNeurofilament Proteins: blood
000282906 650_2 $$2MeSH$$aMale
000282906 650_2 $$2MeSH$$aFemale
000282906 650_2 $$2MeSH$$aMiddle Aged
000282906 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000282906 650_2 $$2MeSH$$aPhenotype
000282906 650_2 $$2MeSH$$aAged
000282906 650_2 $$2MeSH$$aRNA-Binding Protein FUS: genetics
000282906 650_2 $$2MeSH$$aSuperoxide Dismutase-1: genetics
000282906 650_2 $$2MeSH$$aAdult
000282906 650_2 $$2MeSH$$aDisease Progression
000282906 650_2 $$2MeSH$$aCohort Studies
000282906 650_2 $$2MeSH$$aDNA-Binding Proteins: genetics
000282906 7001_ $$aSchumann, Peggy$$b1
000282906 7001_ $$aKoerbs, Alexander$$b2
000282906 7001_ $$aLin, Hsuen-Ju$$b3
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000282906 7001_ $$aRödiger, Annekathrin$$b7
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000282906 7001_ $$aGroßkreutz, Julian$$b9
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000282906 7001_ $$0P:(DE-2719)9001116$$aWeydt, Patrick$$b11$$udzne
000282906 7001_ $$aWolf, Joachim$$b12
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000282906 7001_ $$aBaum, Petra$$b14
000282906 7001_ $$aMetelmann, Moritz$$b15
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000282906 7001_ $$aStreubel, Berthold$$b17
000282906 7001_ $$aKasper, David C$$b18
000282906 7001_ $$aKoc, Yasemin$$b19
000282906 7001_ $$aKettemann, Dagmar$$b20
000282906 7001_ $$aNorden, Jenny$$b21
000282906 7001_ $$aWalter, Bertram$$b22
000282906 7001_ $$aMünch, Christoph$$b23
000282906 7001_ $$aSpittel, Susanne$$b24
000282906 7001_ $$aMaier, André$$b25
000282906 7001_ $$0P:(DE-2719)2812030$$aKörtvelyessy, Peter$$b26$$udzne
000282906 7001_ $$aMeyer, Thomas$$b27
000282906 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-025-13555-6$$gVol. 273, no. 1, p. 22$$n1$$p22$$tJournal of neurology$$v273$$x0367-004X$$y2025
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