Windl, Otto

[["dc.bibliographiccitation.firstpage","249"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Neurogenetics"],["dc.bibliographiccitation.lastpage","250"],["dc.bibliographiccitation.volume","5"],["dc.contributor.author","Grasbon-Frodl, Eva-Maria"],["dc.contributor.author","Schmalzbauer, R."],["dc.contributor.author","Weber, P."],["dc.contributor.author","Krebs, B."],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T10:43:34Z"],["dc.date.available","2018-11-07T10:43:34Z"],["dc.date.issued","2004"],["dc.identifier.doi","10.1007/s10048-004-0196-x"],["dc.identifier.isi","000226285100008"],["dc.identifier.pmid","15480878"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/47087"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1364-6745"],["dc.title","A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","97"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neurogenetics"],["dc.bibliographiccitation.lastpage","100"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Krebs, B."],["dc.contributor.author","Lederer, R. M."],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Grasbon-Frodl, Eva-Maria"],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T11:05:33Z"],["dc.date.available","2018-11-07T11:05:33Z"],["dc.date.issued","2005"],["dc.identifier.doi","10.1007/s10048-004-0208-x"],["dc.identifier.isi","000229107200007"],["dc.identifier.pmid","15776279"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52093"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1364-6745"],["dc.title","Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","533"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","543"],["dc.bibliographiccitation.volume","58"],["dc.contributor.author","Boesenberg, C."],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Meissner, Bettina"],["dc.contributor.author","Kallenberg, Kai"],["dc.contributor.author","Bartl, Mario"],["dc.contributor.author","Heinemann, U."],["dc.contributor.author","Krasnianski, Anna"],["dc.contributor.author","Stoeck, Katharina"],["dc.contributor.author","Varges, Daniel. A."],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.contributor.author","Zerr, I."],["dc.date.accessioned","2018-11-07T10:55:04Z"],["dc.date.available","2018-11-07T10:55:04Z"],["dc.date.issued","2005"],["dc.description.abstract","Sporadic Creutzfeldt-jakob disease (sCJD) is a rare neurodegenerative disease with the greatest incidence occurring in patients between 60 and 70 years old. Younger patients may also be affected. In this study, we used all case material available from 52 patients with sCJD aged 50 years of younger at disease onset, who were identified between 1993 and 2003 in Germany. The objective of this study was to describe the psychiatric and neurological features of these young patients with emphasis on the different codon 129 genotypes and PrP types, and to compare them with elder patients with sCJD and patients with variant CJD. We also gave particular attention to electroencephalogram, magnetic resonance imaging, and 14-3-3 results, as well as to the neuropathological lesion profile. The clinical syndrome in young patients differs from elder patients with CJD with respect to clinical signs, disease duration, technical investigations, and neuropathological lesion profile. The psychiatric symptoms in young patients with sCJD are similar to the psychiatric symptoms expressed by patients with variant CJD; however, in contrast with the variant cases, young patients with sCJD experience development of prominent dementia early in the disease course."],["dc.identifier.doi","10.1002/ana.20568"],["dc.identifier.isi","000232309900006"],["dc.identifier.pmid","16037975"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49703"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1531-8249"],["dc.relation.issn","0364-5134"],["dc.title","Clinical course in young patients with sporadic Creutzfeldt-Jakob disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e2147"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","3"],["dc.contributor.author","Roeber, Sigrun"],["dc.contributor.author","Grasbon-Frodl, Eva-Maria"],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Krebs, Bjarne"],["dc.contributor.author","Xiang, Wei"],["dc.contributor.author","Vollmert, Caren"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Schroeter, Andreas"],["dc.contributor.author","Arzberger, Thomas"],["dc.contributor.author","Weber, Petra"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T11:15:06Z"],["dc.date.available","2018-11-07T11:15:06Z"],["dc.date.issued","2008"],["dc.description.abstract","Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance. We identified two different rare mutations in codon 188 of the prion protein gene (PRNP) in four patients suffering from a disease clinically very similar to the major subtype of sporadic CJD. Both mutations result in an exchange of the amino acid residue threonine for a highly basic residue, either arginine (T188R) or lysine (T188K). The T188R mutation was found in one patient and the T188K mutation in three patients. The prevalence of mutations at codon 188 of PRNP was tested in 593 sporadic CJD cases and 735 healthy individuals. Neither mutation was found. The data presented here argue in favor of T188K being a pathogenic mutation causing genetic CJD. Since one individual with this mutation, who is the father of a clinically affected patient with T188K mutation, is now 79 years old and shows no signs of disease, this mutation is likely associated with a penetrance under 100%. Further observations will have to show whether T188R is a pathogenic mutation."],["dc.identifier.doi","10.1371/journal.pone.0002147"],["dc.identifier.isi","000262172800012"],["dc.identifier.pmid","18478114"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8256"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54294"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 2.5"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.5"],["dc.title","Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["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.firstpage","2558"],["dc.bibliographiccitation.journal","Brain"],["dc.bibliographiccitation.lastpage","2566"],["dc.bibliographiccitation.volume","125"],["dc.contributor.author","Tschampa, Henriette J."],["dc.contributor.author","Herms, J. W."],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Maruschak, B."],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Jastrow, U."],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Steinhoff, B. J."],["dc.contributor.author","Poser, Sigrid"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T09:51:28Z"],["dc.date.available","2018-11-07T09:51:28Z"],["dc.date.issued","2002"],["dc.description.abstract","The pathogenesis underlying the typical findings in Creutzfeldt-Jakob disease (CJD) such as periodic EEG changes or myoclonus is not fully understood. The thalamus possesses a high density of inhibitory neurones and serves as a crucial pacemaker of rhythmic EEG activity. As inhibitory neurones expressing parvalbumin (PV) are reduced in the cerebral cortex and hippocampus in sporadic CJD (sCJD), we studied the distribution and number of PV-immunoreactive neurones in sCJD thalami in order to determine whether damage to them could account for certain clinical findings. Immuno histochemical analysis was performed on the thalami from 21 sCJD patients and five controls. The number of PV+ neurones was counted in the thalamic nuclei and compared with clinical and molecular findings. In sCJD patients, PV+ neurones were significantly reduced in the ventrolateral posterior (VLp), ventrolateral anterior (VLa), anteroventral (AV), lateral dorsal (LD), mediodorsal (MD) and reticular (Re) thalamic nuclei (P < 0.05). The VLp was especially damaged in sCJD patients with homozygosity for methionine at codon 129 and scrapie prion protein (PrPSc) type 1. Patients with typical EEG changes [periodic sharp wave complexes (PSWCs)] and myoclonus had a predominant loss of PV+ cells in the reticular thalamic nucleus. In conclusion, our data support the hypothesis that the damage to PV-immunoreactive neurones determines the generation of certain typical clinical features of CJD, i.e. PSWCs associated with myoclonus."],["dc.identifier.doi","10.1093/brain/awf253"],["dc.identifier.isi","000178834400016"],["dc.identifier.pmid","12390980"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/35920"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0006-8950"],["dc.title","Clinical findings in sporadic Creutzfeldt-Jakob disease correlate with thalamic pathology"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e53"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","Vollmert, Caren"],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Xiang, Wei"],["dc.contributor.author","Rosenberger, Albert"],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Wichmann, H-E"],["dc.contributor.author","Bickeboeller, Heike"],["dc.contributor.author","Illig, Thomas"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T09:11:27Z"],["dc.date.available","2018-11-07T09:11:27Z"],["dc.date.issued","2006"],["dc.description.abstract","Background: A single nucleotide polymorphism ( SNP) in the coding region of the prion protein gene ( PRNP) at codon 129 has been repeatedly shown to be an associated factor to sporadic Creutzfeldt-Jakob disease (sCJD), but additional major predisposing DNA variants for sCJD are still unknown. Several previous studies focused on the characterisation of polymorphisms in PRNP and the prion- like doppel gene (PRND), generating contradictory results on relatively small sample sets. Thus, extensive studies are required for validation of the polymorphisms in PRNP and PRND. Methods: We evaluated a set of nine SNPs of PRNP and one SNP of PRND in 593 German sCJD patients and 748 German healthy controls. Genotyping was performed using MALDI-TOF mass spectrometry. Results: In addition to PRNP 129, we detected a significant association between sCJD and allele frequencies of six further PRNP SNPs. No significant association of PRND T174M with sCJD was shown. We observed strong linkage disequilibrium within eight adjacent PRNP SNPs, including PRNP 129. However, the association of sCJD with PRNP 1368 and PRNP 34296 appeared to be independent on the genotype of PRNP 129. We additionally identified the most common haplotypes of PRNP to be over-represented or under-represented in our cohort of patients with sCJD. Conclusion: Our study evaluated previous findings of the association of SNPs in the PRNP and PRND genes in the largest cohorts for association study in sCJD to date, and extends previous findings by defining for the first time the haplotypes associated with sCJD in a large population of the German CJD surveillance study."],["dc.identifier.doi","10.1136/jmg.2006.040931"],["dc.identifier.isi","000241693600014"],["dc.identifier.pmid","17047093"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26724"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","B M J Publishing Group"],["dc.relation.issn","0022-2593"],["dc.title","Significant association of a M129V independent polymorphism in the 5 ' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","242"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","257"],["dc.bibliographiccitation.volume","58"],["dc.contributor.author","Xiang, Wei"],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Westner, I. M."],["dc.contributor.author","Neumann, M."],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Lederer, R. M."],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T10:56:54Z"],["dc.date.available","2018-11-07T10:56:54Z"],["dc.date.issued","2005"],["dc.description.abstract","The pathomechanism of sporadic Creutzfeldt Jakob disease (sCJD) in the central nervous system is insufficiently understood. The aims of this study were to identify differentially regulated genes in the frontal cortex of sCJD and to profile the gene expression patterns in sCJD by using Affymetrix HGU133A microarrays (Affymetrix, Santa Clara, CA). The microarray data were generated by dChip and analyzed by Significance Analysis of Microarray (SAM) software. A comparison between control and sCJD samples identified 79 upregulated and 275 downregulated genes, which showed at least 1.5- and 2-fold changes, respectively, in sCJD frontal cortex, with an estimated false discovery rate of 5% or less. The major alterations in sCJD brains included upregulation of the genes encoding immune and stress-response factors and elements involved in cell death and cell cycle, as well as prominent downregulation of genes encoding synaptic proteins. A comparison of the molecular subtypes of sCJD showed various expression patterns associated with particular subtypes. The range of the upregulated genes and the degree of the increased expression appeared to be correlated with the degree of the neuropathological alterations in particular subtypes. Conspicuously, sCJD brains showed a great similarity with ageing human brains, both in the global expression patterns and in the identified differentially expressed genes."],["dc.identifier.doi","10.1002/ana.20551"],["dc.identifier.isi","000230856000009"],["dc.identifier.pmid","16049922"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50125"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0364-5134"],["dc.title","Cerebral gene expression profiles in sporadic Creutzfeldt-Jakob disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","443"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Acta Neuropathologica"],["dc.bibliographiccitation.lastpage","448"],["dc.bibliographiccitation.volume","109"],["dc.contributor.author","Roeber, S."],["dc.contributor.author","Krebs, B."],["dc.contributor.author","Neumann, M."],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Grasbon-Frodl, Eva-Maria"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T11:08:59Z"],["dc.date.available","2018-11-07T11:08:59Z"],["dc.date.issued","2005"],["dc.description.abstract","A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H) is described. By comparison with two preceding reports, the case described here displayed two distinct biochemical and neuropathological features. Western blot analysis of brain homogenates showed, in addition to the commonly observed three bands of abnormal protease-resistant PrP isoform (PrPSc), an additional band of about 17 kDa. Neuropathological examination of the post mortem brain revealed tau pathology in the hippocampus and entorhinal cortex, as well as ballooned neurons in the cortex, hippocampus and subcortical gray matter."],["dc.identifier.doi","10.1007/s00401-004-0978-0"],["dc.identifier.isi","000229000400013"],["dc.identifier.pmid","15739100"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52915"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0001-6322"],["dc.title","Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Neural Transmission"],["dc.bibliographiccitation.volume","113"],["dc.contributor.author","Xiang, Wei"],["dc.contributor.author","Windl, Otto"],["dc.contributor.author","Neumann, M."],["dc.contributor.author","Zerr, I."],["dc.contributor.author","Lederer, R. M."],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T09:46:03Z"],["dc.date.available","2018-11-07T09:46:03Z"],["dc.date.issued","2006"],["dc.format.extent","XV"],["dc.identifier.isi","000238100400067"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/34779"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Wien"],["dc.relation.issn","0300-9564"],["dc.title","Gene expression profiles in frontal cortex of post-mortem human brains from patients with sporadic Creutzfeldt-Jakob disease"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]