Cramm, Maria

[["dc.bibliographiccitation.firstpage","691"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","703"],["dc.bibliographiccitation.volume","85"],["dc.contributor.author","Candelise, Niccolò"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Villar‐Piqué, Anna"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Thom, Tobias"],["dc.contributor.author","Silva Correia, Susana Margarida"],["dc.contributor.author","Cunha, José Eriton Gomes"],["dc.contributor.author","Möbius, Wiebke"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2021-06-01T10:49:23Z"],["dc.date.available","2021-06-01T10:49:23Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1002/ana.25446"],["dc.identifier.pmid","30805957"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/86271"],["dc.identifier.url","https://sfb1286.uni-goettingen.de/literature/publications/82"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation","SFB 1286: Quantitative Synaptologie"],["dc.relation","SFB 1286 | B08: Definition von Kaskaden molekularer Veränderungen bei Synucleinopathien während der Neurodegeneration"],["dc.relation.eissn","1531-8249"],["dc.relation.issn","0364-5134"],["dc.relation.workinggroup","RG Outeiro (Experimental Neurodegeneration)"],["dc.title","Seeding variability of different alpha synuclein strains in synucleinopathies"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2233"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Nature Protocols"],["dc.bibliographiccitation.lastpage","2242"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Müller-Cramm, Dominik"],["dc.contributor.author","Collins, Steven"],["dc.contributor.author","Atarashi, Ryuichiro"],["dc.contributor.author","Satoh, Katsuya"],["dc.contributor.author","Orrù, Christina D"],["dc.contributor.author","Groveman, Bradley R"],["dc.contributor.author","Zafar, Saima"],["dc.contributor.author","Schulz-Schaeffer, Walter J"],["dc.contributor.author","Caughey, Byron"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2020-12-10T18:09:33Z"],["dc.date.available","2020-12-10T18:09:33Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1038/nprot.2016.120"],["dc.identifier.eissn","1750-2799"],["dc.identifier.issn","1754-2189"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/73688"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","The real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","710"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Alzheimer's & Dementia: The Journal of the Alzheimer's Association"],["dc.bibliographiccitation.lastpage","719"],["dc.bibliographiccitation.volume","13"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Kruse, Niels"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Gotzmann, Nadine"],["dc.contributor.author","Golanska, Ewa"],["dc.contributor.author","Thüne, Katrin"],["dc.contributor.author","Zejneli, Orgeta"],["dc.contributor.author","Kanata, Eirini"],["dc.contributor.author","Knipper, Tobias"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Lange, Peter"],["dc.contributor.author","Zafar, Saima"],["dc.contributor.author","Sikorska, Beata"],["dc.contributor.author","Liberski, Pawel P."],["dc.contributor.author","Mitrova, Eva"],["dc.contributor.author","Varges, Daniela"],["dc.contributor.author","Schmidt, Christian"],["dc.contributor.author","Sklaviadis, Theodoros"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2018-10-08T13:38:00Z"],["dc.date.available","2018-10-08T13:38:00Z"],["dc.date.issued","2017-06"],["dc.description.abstract","Accurate diagnosis of prion diseases and discrimination from alternative dementias gain importance in the clinical routine, but partial overlap in cerebrospinal fluid (CSF) biomarkers impedes absolute discrimination in the differential diagnostic context. We established the clinical parameters for prion disease diagnosis for the quantification of CSF α-synuclein in patients with sporadic (n = 234) and genetic (n = 56) prion diseases, in cases with cognitive impairment/dementia or neurodegenerative disease (n = 278), and in the neurologic control group (n = 111). An optimal cutoff value of 680 pg/mL α-synuclein results in 94% sensitivity and 96% specificity when diagnosing sporadic Creutzfeldt-Jakob disease (CJD). Genetic CJD cases showed increased CSF α-synuclein values. No increased α-synuclein levels were detected in non-CJD cases with rapid progression course. Detection of α-synuclein in the CSF of patients with suspected CJD is a valuable diagnostic test reaching almost full discrimination from non-prion disease cases. These data highlight the utility of CSF α-synuclein quantification in front of classical CSF biomarkers in clinical routine."],["dc.fs.pkfprnr","61006"],["dc.identifier.doi","10.1016/j.jalz.2016.09.013"],["dc.identifier.fs","631450"],["dc.identifier.pmid","27870938"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/15884"],["dc.language.iso","en"],["dc.notes.status","final"],["dc.relation.eissn","1552-5279"],["dc.title","Evaluation of α-synuclein as a novel cerebrospinal fluid biomarker in different forms of prion diseases"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1871"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Journal of Neurology"],["dc.bibliographiccitation.lastpage","1879"],["dc.bibliographiccitation.volume","260"],["dc.contributor.author","Varges, Daniel. A."],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Wemheuer, Wiebke M."],["dc.contributor.author","Damman, Insa"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Kallenberg, Kai"],["dc.contributor.author","Shirneshan, Katayoon"],["dc.contributor.author","Elkenani, Manar"],["dc.contributor.author","Markwort, Susanne"],["dc.contributor.author","Faist, Michael"],["dc.contributor.author","Kohlhase, Juergen"],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2018-11-07T09:23:06Z"],["dc.date.available","2018-11-07T09:23:06Z"],["dc.date.issued","2013"],["dc.description.abstract","We discuss relevant aspects in two siblings with a neurodegenerative process of unclear aetiology who developed progressive dementia with global aphasia and hyperoral behaviour at the ages of 39 and 46 years and who died 6 and 5 years after disease onset. The cases were reported to the National Reference Center for TSE Surveillance in Gottingen, Germany. Detailed clinical examinations, CSF, blood samples, and copies of the important diagnostic tests (magnetic resonance imaging, electroencephalogram, laboratory tests) were obtained. Further neuropathological and genetic analyses were performed. Cerebral magnetic resonance imaging of both siblings showed prominent changes in signal intensity, especially in the left medial temporal cortex, but also the hippocampal formation. Neuropathological examination revealed spongiform changes, neuronal loss, and astrocytic gliosis, which are typical in Creutzfeldt-Jakob disease. However, no prion protein deposits were detectable by immunohistochemical analysis, Western blot, or PET blot, though abundant tau protein deposits were observed. A mutation in the coding region of the prion protein genes of both siblings was excluded. A detailed search of the literature revealed no other cases with a similar clinical and neuropathological appearance. While the disease aetiology remains unclear, the findings point to a neurodegenerative process and most likely a genetic disease."],["dc.identifier.doi","10.1007/s00415-013-6897-z"],["dc.identifier.isi","000321610500025"],["dc.identifier.pmid","23546304"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29501"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Heidelberg"],["dc.relation.issn","0340-5354"],["dc.title","Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Prion"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Ferrer, Isidro"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Frau-Mendez, Lida"],["dc.contributor.author","Fernandez-Vega, Ivan"],["dc.contributor.author","Thune, Katrin"],["dc.contributor.author","Antonio del Rio, Jose"],["dc.contributor.author","Schmizt, Matthias"],["dc.contributor.author","Ansoleaga, Belen"],["dc.contributor.author","Gotzmann, Nadine"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Jose Zarranz, Juan"],["dc.date.accessioned","2018-11-07T10:20:26Z"],["dc.date.available","2018-11-07T10:20:26Z"],["dc.date.issued","2016"],["dc.format.extent","S83"],["dc.identifier.isi","000374656300119"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41890"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Taylor & Francis Inc"],["dc.publisher.place","Philadelphia"],["dc.relation.issn","1933-690X"],["dc.relation.issn","1933-6896"],["dc.title","Identification of new molecular alterations in Fatal Familial Insomnia"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Brain"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Villar-Piqué, Anna"],["dc.contributor.author","Hermann, Peter"],["dc.contributor.author","Escaramís, Geòrgia"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","Chen, Cao"],["dc.contributor.author","Kruse, Niels"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Golanska, Ewa"],["dc.contributor.author","Sikorska, Beata"],["dc.contributor.author","Llorens, Franc"],["dc.date.accessioned","2022-04-01T10:00:37Z"],["dc.date.available","2022-04-01T10:00:37Z"],["dc.date.issued","2022"],["dc.description.abstract","Abstract Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence variations in the prion protein gene, PRNP. Data on CSF biomarkers in patients with genetic prion diseases are limited and conflicting results have been reported for unclear reasons. Here, we aimed to analyse the diagnostic accuracy of CSF biomarkers currently used in prion clinical diagnosis in 302 symptomatic genetic prion disease cases from 11 prion diagnostic centres, encompassing a total of 36 different pathogenic sequence variations within the open reading frame of PRNP. CSF samples were assessed for the surrogate markers of neurodegeneration, 14-3-3 protein (14-3-3), total-tau protein (t-tau) and α-synuclein and for prion seeding activity through the real-time quaking-induced conversion assay. Biomarker results were compared with those obtained in healthy and neurological controls. For the most prevalent PRNP pathogenic sequence variations, biomarker accuracy and associations between biomarkers, demographic and genetic determinants were assessed. Additionally, the prognostic value of biomarkers for predicting total disease duration from symptom onset to death was investigated. High sensitivity of the four biomarkers was detected for genetic Creutzfeldt–Jakob disease associated with the E200K and V210I mutations, but low sensitivity was observed for mutations associated with Gerstmann–Sträussler–Scheinker syndrome and fatal familial insomnia. All biomarkers showed good to excellent specificity using the standard cut-offs often used for sporadic Creutzfeldt–Jakob disease. In genetic prion diseases related to octapeptide repeat insertions, the biomarker sensitivity correlated with the number of repeats. New genetic prion disease-specific cut-offs for 14-3-3, t-tau and α-synuclein were calculated. Disease duration in genetic Creutzfeldt–Jakob disease-E200K, Gerstmann–Sträussler–Scheinker-P102L and fatal familial insomnia was highly dependent on PRNP codon 129 MV polymorphism and was significantly associated with biomarker levels. In a large cohort of genetic prion diseases, the simultaneous analysis of CSF prion disease biomarkers allowed the determination of new mutation-specific cut-offs improving the discrimination of genetic prion disease cases and unveiled genetic prion disease-specific associations with disease duration."],["dc.identifier.doi","10.1093/brain/awab350"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/105472"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-530"],["dc.relation.eissn","1460-2156"],["dc.relation.issn","0006-8950"],["dc.title","Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","577"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Alzheimer s & Dementia"],["dc.bibliographiccitation.lastpage","589"],["dc.bibliographiccitation.volume","12"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Karch, Andre"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Lange, Peter"],["dc.contributor.author","Gherib, Kerim"],["dc.contributor.author","Varges, Daniel. A."],["dc.contributor.author","Schmidt, Christian D."],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Stoeck, Katharina"],["dc.date.accessioned","2018-11-07T10:14:52Z"],["dc.date.available","2018-11-07T10:14:52Z"],["dc.date.issued","2016"],["dc.description.abstract","Introduction: The analysis of cerebrospinal fluid biomarkers gains importance in clinical routine and is effective in substantiating dementia diagnosis in the differential diagnostic context. Methods: We evaluated the levels of beta-amyloid (A beta) 42, A beta 40, tau, and P-tau in a large patient population subdivided into prion diseases, tauopathies, synucleinopathies, and controls. Diagnostic test evaluation was assessed by ROC area under the curve analysis. Results: High tau levels were detected in sporadic Creutzfeldt-Jakob disease (sCJD) and high P-tau levels in Alzheimer's disease (AD) and sCJD. A beta 40 was lower exclusively in prionopathies, but low A beta 42 was detected in AD, sCJD, and Lewy body dementia. When disease groups were stratified according to the underlying proteinopathy, we detected disease-type specificities for all biomarkers. P-tau/tau, A beta 42/40, A beta 42/tau, and A beta 40/tau ratios proved valuable in discriminating disease groups and controls, especially P-tau/tau ratio in the identification of sCJD cases. Discussion: Combining the biomarker panel allows differentiating between various types of neuro-degenerative dementias and contributes to a better understanding of their pathophysiological processes. (C) 2015 Alzheimer's Association. Published by Elsevier Inc. All rights reserved."],["dc.identifier.doi","10.1016/j.jalz.2015.10.009"],["dc.identifier.isi","000376054200007"],["dc.identifier.pmid","26718584"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40704"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Inc"],["dc.relation.issn","1552-5279"],["dc.relation.issn","1552-5260"],["dc.title","Comparative analysis of cerebrospinal fluid biomarkers in the differential diagnosis of neurodegenerative dementia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","93"],["dc.bibliographiccitation.journal","Prion"],["dc.bibliographiccitation.lastpage","94"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2018-11-07T09:11:22Z"],["dc.date.available","2018-11-07T09:11:22Z"],["dc.date.issued","2012"],["dc.identifier.isi","000304234300193"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26705"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Landes Bioscience"],["dc.publisher.place","Austin"],["dc.relation.issn","1933-6896"],["dc.title","Comparison of two diagnostic approaches-Detection of PrPSc via quaking-induced conversion and 14-3-3 in cerebrospinal fluid of Creutzfeldt-Jakob disease patients"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2417"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","2436"],["dc.bibliographiccitation.volume","25"],["dc.contributor.author","Llorens, Franc"],["dc.contributor.author","Thuene, Katrin"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Ansoleaga, Belen"],["dc.contributor.author","Frau-Mendez, Margalida A."],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Tahir, Waqas"],["dc.contributor.author","Gotzmann, Nadine"],["dc.contributor.author","Berjaoui, Sara"],["dc.contributor.author","Carmona, Margarita"],["dc.contributor.author","Silva, Christopher J."],["dc.contributor.author","Fernandez-Vega, Ivan"],["dc.contributor.author","Jose Zarranz, Juan"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Ferrer, Isidro"],["dc.date.accessioned","2018-11-07T10:12:45Z"],["dc.date.available","2018-11-07T10:12:45Z"],["dc.date.issued","2016"],["dc.description.abstract","Fatal familial insomnia is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). FFI is manifested by sleep disturbances with insomnia, autonomic disorders and spontaneous and evoked myoclonus, among other symptoms. This study describes new neuropathological and biochemical observations in a series of eight patients with FFI. The mediodorsal and anterior nuclei of the thalamus have severe neuronal loss and marked astrocytic gliosis in every case, whereas the entorhinal cortex is variably affected. Spongiform degeneration only occurs in the entorhinal cortex. Synaptic and fine granular proteinase K digestion (PrPres) immunoreactivity is found in the entorhinal cortex but not in the thalamus. Interleukin 6, interleukin 10 receptor alpha subunit, colony stimulating factor 3 receptor and toll-like receptor 7 mRNA expression increases in the thalamus in FFI. PrPc levels are significantly decreased in the thalamus, entorhinal cortex and cerebellum in FFI. This is accompanied by a particular PrPc and PrPres band profile. Altered PrP solubility consistent with significantly reduced PrP levels in the cytoplasmic fraction and increased PrP levels in the insoluble fraction are identified in FFI cases. Amyloid-like deposits are only seen in the entorhinal cortex. The RT-QuIC assay reveals that all the FFI samples of the entorhinal cortex are positive, whereas the thalamus is positive only in three cases and the cerebellumin two cases. The present findings unveil particular neuropathological and neuroinflammatory profiles in FFI and novel characteristics of natural prion protein in FFI, altered PrPres and Scrapie PrP (abnormal and pathogenic PrP) patterns and region-dependent putative capacity of PrP seeding."],["dc.identifier.doi","10.1093/hmg/ddw108"],["dc.identifier.isi","000393062900005"],["dc.identifier.pmid","27056979"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40298"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","1460-2083"],["dc.relation.issn","0964-6906"],["dc.title","Identification of new molecular alterations in fatal familial insomnia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","e331"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","e338"],["dc.bibliographiccitation.volume","91"],["dc.contributor.author","Hermann, Peter"],["dc.contributor.author","Laux, Mareike"],["dc.contributor.author","Glatzel, Markus"],["dc.contributor.author","Matschke, Jakob"],["dc.contributor.author","Knipper, Tobias"],["dc.contributor.author","Goebel, Stefan"],["dc.contributor.author","Treig, Johannes"],["dc.contributor.author","Schulz-Schaeffer, Walter"],["dc.contributor.author","Cramm, Maria"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2020-12-10T18:41:44Z"],["dc.date.available","2020-12-10T18:41:44Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1212/WNL.0000000000005860"],["dc.identifier.eissn","1526-632X"],["dc.identifier.issn","0028-3878"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77662"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]