Kretzschmar, Hans A.

[["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","309"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Acta Neuropathologica"],["dc.bibliographiccitation.lastpage","320"],["dc.bibliographiccitation.volume","117"],["dc.contributor.author","Alafuzoff, Irina"],["dc.contributor.author","Thal, Dietmar Rudolf"],["dc.contributor.author","Arzberger, Thomas"],["dc.contributor.author","Bogdanovic, Nenad"],["dc.contributor.author","Al-Sarraj, Safa"],["dc.contributor.author","Bodi, Istvan"],["dc.contributor.author","Boluda, Susan"],["dc.contributor.author","Bugiani, Orso"],["dc.contributor.author","Duyckaerts, Charles"],["dc.contributor.author","Gelpi, Ellen"],["dc.contributor.author","Gentleman, Steven M."],["dc.contributor.author","Giaccone, Giorgio"],["dc.contributor.author","Graeber, Manuel B."],["dc.contributor.author","Hortobagyi, Tibor"],["dc.contributor.author","Hoeftberger, Romana"],["dc.contributor.author","Ince, Paul G."],["dc.contributor.author","Ironside, James W."],["dc.contributor.author","Kavantzas, Nikolaos"],["dc.contributor.author","King, Andrew J."],["dc.contributor.author","Korkolopoulou, Penelope"],["dc.contributor.author","Kovacs, Gabor G."],["dc.contributor.author","Meyronet, David"],["dc.contributor.author","Monoranu, Camelia"],["dc.contributor.author","Nilsson, Tatjana"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","Patsouris, Efstratios"],["dc.contributor.author","Pikkarainen, Maria"],["dc.contributor.author","Revesz, Tamas"],["dc.contributor.author","Rozemuller, Annemieke"],["dc.contributor.author","Seilhean, Danielle"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Streichenberger, Nathalie"],["dc.contributor.author","Wharton, Stephen B."],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T08:31:48Z"],["dc.date.available","2018-11-07T08:31:48Z"],["dc.date.issued","2009"],["dc.description.abstract","beta-Amyloid (A beta) related pathology shows a range of lesions which differ both qualitatively and quantitatively. Pathologists, to date, mainly focused on the assessment of both of these aspects but attempts to correlate the findings with clinical phenotypes are not convincing. It has been recently proposed in the same way as iota and alpha synuclein related lesions, also A beta related pathology may follow a temporal evolution, i.e. distinct phases, characterized by a step-wise involvement of different brain-regions. Twenty-six independent observers reached an 81% absolute agreement while assessing the phase of A beta, i.e. phase 1 = deposition of A beta exclusively in neocortex, phase 2 = additionally in allocortex, phase 3 = additionally in diencephalon, phase 4 = additionally in brainstem, and phase 5 = additionally in cerebellum. These high agreement rates were reached when at least six brain regions were evaluated. Likewise, a high agreement (93%) was reached while assessing the absence/presence of cerebral amyloid angiopathy (CAA) and the type of CAA (74%) while examining the six brain regions. Of note, most of observers failed to detect capillary CAA when it was only mild and focal and thus instead of type 1, type 2 CAA was diagnosed. In conclusion, a reliable assessment of A beta phase and presence/absence of CAA was achieved by a total of 26 observers who examined a standardized set of blocks taken from only six anatomical regions, applying commercially available reagents and by assessing them as instructed. Thus, one may consider rating of A beta-phases as a diagnostic tool while analyzing subjects with suspected Alzheimer's disease (AD). Because most of these blocks are currently routinely sampled by the majority of laboratories, assessment of the A beta phase in AD is feasible even in large scale retrospective studies."],["dc.description.sponsorship","Medical Research Council [G0600676]; Parkinson's UK [G-0909]"],["dc.identifier.doi","10.1007/s00401-009-0485-4"],["dc.identifier.isi","000263540500008"],["dc.identifier.pmid","19184666"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/5044"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17199"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0001-6322"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Assessment of beta-amyloid deposits in human brain: a study of the BrainNet Europe Consortium"],["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","635"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Acta Neuropathologica"],["dc.bibliographiccitation.lastpage","652"],["dc.bibliographiccitation.volume","117"],["dc.contributor.author","Alafuzoff, Irina"],["dc.contributor.author","Ince, Paul G."],["dc.contributor.author","Arzberger, Thomas"],["dc.contributor.author","Al-Sarraj, Safa"],["dc.contributor.author","Bell, Jeanne E."],["dc.contributor.author","Bodi, Istvan"],["dc.contributor.author","Bogdanovic, Nenad"],["dc.contributor.author","Bugiani, Orso"],["dc.contributor.author","Ferrer, Isidro"],["dc.contributor.author","Gelpi, Ellen"],["dc.contributor.author","Gentleman, Steven M."],["dc.contributor.author","Giaccone, Giorgio"],["dc.contributor.author","Ironside, James W."],["dc.contributor.author","Kavantzas, Nikolaos"],["dc.contributor.author","King, Andrew J."],["dc.contributor.author","Korkolopoulou, Penelope"],["dc.contributor.author","Kovacs, Gabor G."],["dc.contributor.author","Meyronet, David"],["dc.contributor.author","Monoranu, Camelia"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","Parkkinen, Laura"],["dc.contributor.author","Patsouris, Efstratios"],["dc.contributor.author","Roggendorf, Wolfgang"],["dc.contributor.author","Rozemuller, Annemieke"],["dc.contributor.author","Stadelmann-Nessler, Christine"],["dc.contributor.author","Streichenberger, Nathalie"],["dc.contributor.author","Thal, Dietmar Rudolf"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.date.accessioned","2018-11-07T08:28:50Z"],["dc.date.available","2018-11-07T08:28:50Z"],["dc.date.issued","2009"],["dc.description.abstract","When 22 members of the BrainNet Europe (BNE) consortium assessed 31 cases with alpha-synuclein (alpha S) immunoreactive (IR) pathology applying the consensus protocol described by McKeith and colleagues in 2005, the inter-observer agreement was 80%, being lowest in the limbic category (73%). When applying the staging protocol described by Braak and colleagues in 2003, agreement was only 65%, and in some cases as low as 36%. When modifications of these strategies, i.e., McKeith's protocol by Leverenz and colleagues from 2009, Braak's staging by Muller and colleagues from 2005 were applied then the agreement increased to 78 and 82%, respectively. In both of these modifications, a reduced number of anatomical regions/blocks are assessed and still in a substantial number of cases, the inter-observer agreement differed significantly. Over 80% agreement in both typing and staging of alpha S pathology could be achieved when applying a new protocol, jointly designed by the BNE consortium. The BNE-protocol assessing alpha S-IR lesions in nine blocks offered advantages over the previous modified protocols because the agreement between the 22 observers was over 80% in most cases. Furthermore, in the BNE-protocol, the alpha S pathology is assessed as being present or absent and thus the quality of staining and the assessment of the severity of alpha S-IR pathology do not alter the inter-observer agreement, contrary to other assessment strategies. To reach these high agreement rates an entity of amygdala-predominant category was incorporated. In conclusion, here we report a protocol for assessing alpha S pathology that can achieve a high inter-observer agreement for both the assignment to brainstem, limbic, neocortical and amygdala-predominant categories of synucleinopathy and the Braak stages."],["dc.identifier.doi","10.1007/s00401-009-0523-2"],["dc.identifier.isi","000266137100003"],["dc.identifier.pmid","19330340"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11217"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/16515"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0001-6322"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Staging/typing of Lewy body related alpha-synuclein pathology: a study of the BrainNet Europe Consortium"],["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","565"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","European Archives of Psychiatry and Clinical Neuroscience"],["dc.bibliographiccitation.lastpage","577"],["dc.bibliographiccitation.volume","262"],["dc.contributor.author","Schmitt, Andrea"],["dc.contributor.author","Leonardi-Essmann, Fernando"],["dc.contributor.author","Durrenberger, Pascal F."],["dc.contributor.author","Wichert, Sven P."],["dc.contributor.author","Spanagel, Rainer"],["dc.contributor.author","Arzberger, Thomas"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.contributor.author","Zink, Mathias"],["dc.contributor.author","Herrera-Marschitz, Mario"],["dc.contributor.author","Reynolds, Richard"],["dc.contributor.author","Rossner, Moritz J."],["dc.contributor.author","Falkai, Peter"],["dc.contributor.author","Gebicke-Haerter, Peter J."],["dc.date.accessioned","2018-11-07T09:05:09Z"],["dc.date.available","2018-11-07T09:05:09Z"],["dc.date.issued","2012"],["dc.description.abstract","Inaccurate wiring and synaptic pathology appear to be major hallmarks of schizophrenia. A variety of gene products involved in synaptic neurotransmission and receptor signaling are differentially expressed in brains of schizophrenia patients. However, synaptic pathology may also develop by improper expression of intra- and extra-cellular structural elements weakening synaptic stability. Therefore, we have investigated transcription of these elements in the left superior temporal gyrus of 10 schizophrenia patients and 10 healthy controls by genome-wide microarrays (Illumina). Fourteen up-regulated and 22 downregulated genes encoding structural elements were chosen from the lists of differentially regulated genes for further qRT-PCR analysis. Almost all genes confirmed by this method were downregulated. Their gene products belonged to vesicle-associated proteins, that is, synaptotagmin 6 and syntaxin 12, to cytoskeletal proteins, like myosin 6, pleckstrin, or to proteins of the extracellular matrix, such as collagens, or laminin C3. Our results underline the pivotal roles of structural genes that control formation and stabilization of pre- and post-synaptic elements or influence axon guidance in schizophrenia. The glial origin of collagen or laminin highlights the close interrelationship between neurons and glial cells in establishment and maintenance of synaptic strength and plasticity. It is hypothesized that abnormal expression of these and related genes has a major impact on the pathophysiology of schizophrenia."],["dc.identifier.doi","10.1007/s00406-012-0306-y"],["dc.identifier.isi","000309561800005"],["dc.identifier.pmid","22441714"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/9472"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25255"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Heidelberg"],["dc.relation.issn","0940-1334"],["dc.rights","CC BY-NC-ND 3.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc-nd/3.0"],["dc.title","Structural synaptic elements are differentially regulated in superior temporal cortex of schizophrenia patients"],["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"]]