Ponto, Claudia

[["dc.bibliographiccitation.firstpage","114"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","EMERGING INFECTIOUS DISEASES"],["dc.bibliographiccitation.lastpage","117"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Douet, Jean Yves"],["dc.contributor.author","Zafar, Saima"],["dc.contributor.author","Perret-Liaudet, Armand"],["dc.contributor.author","Lacroux, Caroline"],["dc.contributor.author","Lugan, Severine"],["dc.contributor.author","Aron, Naima"],["dc.contributor.author","Cassard, Herve"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Corbiere, Fabien"],["dc.contributor.author","Torres, Juan Maria"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Andreoletti, Olivier"],["dc.date.accessioned","2018-11-07T09:46:58Z"],["dc.date.available","2018-11-07T09:46:58Z"],["dc.date.issued","2014"],["dc.description.abstract","We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were positive for sporadic Creutzfeldt-Jakob disease. The measured infectivity levels were comparable to those reported in various animals with transmissible spongiform encephalopathies."],["dc.identifier.doi","10.3201/eid2001.130353"],["dc.identifier.isi","000329272100018"],["dc.identifier.pmid","24377668"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/35003"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Centers Disease Control"],["dc.relation.issn","1080-6059"],["dc.relation.issn","1080-6040"],["dc.title","Detection of Infectivity in Blood of Persons with Variant and 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","S90"],["dc.bibliographiccitation.journal","Prion"],["dc.bibliographiccitation.lastpage","S91"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Vallabh, Sonia M."],["dc.contributor.author","Lek, Monkol"],["dc.contributor.author","Estrada, Karol O."],["dc.contributor.author","Samocha, Kaitlin E."],["dc.contributor.author","Sathirapongsasuti, J. Fah"],["dc.contributor.author","McLean, Cory Y."],["dc.contributor.author","Tung, Joyce Y."],["dc.contributor.author","Yu, Linda P. C."],["dc.contributor.author","Gambetti, Pierluigi"],["dc.contributor.author","Blevins, Janis"],["dc.contributor.author","Zhang, S."],["dc.contributor.author","Cohen, Yvonne"],["dc.contributor.author","Chen, Wei"],["dc.contributor.author","Yamada, Masahito"],["dc.contributor.author","Hamaguchi, Tsuyoshi"],["dc.contributor.author","Sanjo, Nobuo"],["dc.contributor.author","Mizusawa, Hidehiro"],["dc.contributor.author","Nakamura, Yosikazu"],["dc.contributor.author","Kitamoto, Tetsuyuki"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Will, Robert G."],["dc.contributor.author","Knight, Richard"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Kraus, Theo F. J."],["dc.contributor.author","Eigenbrod, Sabina"],["dc.contributor.author","Giese, Armin"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","de Pedro-Cuesta, Jesus"],["dc.contributor.author","Haik, Stephane"],["dc.contributor.author","Laplanche, Jean-Louis"],["dc.contributor.author","Bouaziz-Amar, Elodie"],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Capellari, Sabina"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","O'Donnell-Luria, Anne H."],["dc.contributor.author","Karczewski, Konrad J."],["dc.contributor.author","Marshall, Jamie L."],["dc.contributor.author","Boehnke, Michael"],["dc.contributor.author","Laakso, Markku"],["dc.contributor.author","Mohlke, Karen L."],["dc.contributor.author","Kahler, Anna"],["dc.contributor.author","Chambert, Kimberly"],["dc.contributor.author","McCarroll, Steven"],["dc.contributor.author","Sullivan, Patrick F."],["dc.contributor.author","Hultman, Christina M."],["dc.contributor.author","Purcell, Shaun M."],["dc.contributor.author","Sklar, Pamela"],["dc.contributor.author","van der Lee, Sven J."],["dc.contributor.author","Rozemuller, Annemieke"],["dc.contributor.author","Jansen, Casper"],["dc.contributor.author","Hofman, Albert"],["dc.contributor.author","Kraaij, Robert"],["dc.contributor.author","van Rooij, Jeroen G. J."],["dc.contributor.author","Ikram, M. Arfan"],["dc.contributor.author","Uitterlinden, Andre G."],["dc.contributor.author","van Duijn, Cornelia M."],["dc.contributor.author","Daly, Mark J."],["dc.contributor.author","MacArthur, Daniel G."],["dc.date.accessioned","2018-11-07T09:58:20Z"],["dc.date.available","2018-11-07T09:58:20Z"],["dc.date.issued","2015"],["dc.identifier.isi","000354444900168"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37345"],["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","Assessing the pathogenicity of rare PRNP variants by comparing case and control allele frequency"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","322ra9"],["dc.bibliographiccitation.issue","322"],["dc.bibliographiccitation.journal","Science Translational Medicine"],["dc.bibliographiccitation.volume","8"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Vallabh, Sonia M."],["dc.contributor.author","Lek, Monkol"],["dc.contributor.author","Estrada, Karol O."],["dc.contributor.author","Samocha, Kaitlin E."],["dc.contributor.author","Sathirapongsasuti, J. Fah"],["dc.contributor.author","McLean, Cory Y."],["dc.contributor.author","Tung, Joyce Y."],["dc.contributor.author","Yu, Linda P. C."],["dc.contributor.author","Gambetti, Pierluigi"],["dc.contributor.author","Blevins, Janis"],["dc.contributor.author","Zhang, S."],["dc.contributor.author","Cohen, Yvonne"],["dc.contributor.author","Chen, Wei"],["dc.contributor.author","Yamada, Masahito"],["dc.contributor.author","Hamaguchi, Tsuyoshi"],["dc.contributor.author","Sanjo, Nobuo"],["dc.contributor.author","Mizusawa, Hidehiro"],["dc.contributor.author","Nakamura, Yosikazu"],["dc.contributor.author","Kitamoto, Tetsuyuki"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Will, Robert G."],["dc.contributor.author","Knight, Richard"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Kraus, Theo F. J."],["dc.contributor.author","Eigenbrod, Sabina"],["dc.contributor.author","Giese, Armin"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","de Pedro-Cuesta, Jesus"],["dc.contributor.author","HaiK, Stephane"],["dc.contributor.author","Laplanche, Jean-Louis"],["dc.contributor.author","Bouaziz-Amar, Elodie"],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Capellari, Sabina"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","Poleggi, Anna"],["dc.contributor.author","Ladogana, Anna"],["dc.contributor.author","O'Donnell-Luria, Anne H."],["dc.contributor.author","Karczewski, Konrad J."],["dc.contributor.author","Marshall, Jamie L."],["dc.contributor.author","Boehnke, Michael"],["dc.contributor.author","Laakso, Markku"],["dc.contributor.author","Mohlke, Karen L."],["dc.contributor.author","Kahler, Anna"],["dc.contributor.author","Chambert, Kimberly"],["dc.contributor.author","McCarroll, Steven"],["dc.contributor.author","Sullivan, Patrick F."],["dc.contributor.author","Hultman, Christina M."],["dc.contributor.author","Purcell, Shaun M."],["dc.contributor.author","Sklar, Pamela"],["dc.contributor.author","van der Lee, Sven J."],["dc.contributor.author","Rozemuller, Annemieke"],["dc.contributor.author","Jansen, Casper"],["dc.contributor.author","Hofman, Albert"],["dc.contributor.author","Kraaij, Robert"],["dc.contributor.author","van Rooij, Jeroen G. J."],["dc.contributor.author","Ikram, M. Arfan"],["dc.contributor.author","Uitterlinden, Andre G."],["dc.contributor.author","van Duijn, Cornelia M."],["dc.contributor.author","Daly, Mark J."],["dc.contributor.author","MacArthur, Daniel G."],["dc.date.accessioned","2018-11-07T10:19:18Z"],["dc.date.available","2018-11-07T10:19:18Z"],["dc.date.issued","2016"],["dc.description.abstract","More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion disease by analyzing 16,025 prion disease cases, 60,706 population control exomes, and 531,575 individuals genotyped by 23andMe Inc. We show that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence. Although some of this excess can be attributed to benign variants falsely assigned as pathogenic, other variants have genuine effects on disease susceptibility but confer lifetime risks ranging from < 0.1 to similar to 100%. We also show that truncating variants in PRNP have position-dependent effects, with true loss-of-function alleles found in healthy older individuals, a finding that supports the safety of therapeutic suppression of prion protein expression."],["dc.identifier.doi","10.1126/scitranslmed.aad5169"],["dc.identifier.isi","000368511300005"],["dc.identifier.pmid","26791950"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41634"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Assoc Advancement Science"],["dc.relation.issn","1946-6242"],["dc.relation.issn","1946-6234"],["dc.title","Quantifying prion disease penetrance using large population control cohorts"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","e125"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","e134"],["dc.bibliographiccitation.volume","93"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Vallabh, Sonia M."],["dc.contributor.author","Orseth, Margaret C."],["dc.contributor.author","Brandel, Jean-Philippe"],["dc.contributor.author","Haïk, Stéphane"],["dc.contributor.author","Laplanche, Jean-Louis"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Parchi, Piero"],["dc.contributor.author","Capellari, Sabina"],["dc.contributor.author","Safar, Jiri"],["dc.contributor.author","Kenny, Janna"],["dc.contributor.author","Fong, Jamie C."],["dc.contributor.author","Takada, Leonel T."],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Hermann, Peter"],["dc.contributor.author","Knipper, Tobias"],["dc.contributor.author","Stehmann, Christiane"],["dc.contributor.author","Kitamoto, Tetsuyuki"],["dc.contributor.author","Ae, Ryusuke"],["dc.contributor.author","Hamaguchi, Tsuyoshi"],["dc.contributor.author","Sanjo, Nobuo"],["dc.contributor.author","Tsukamoto, Tadashi"],["dc.contributor.author","Mizusawa, Hidehiro"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Chiesa, Roberto"],["dc.contributor.author","Roiter, Ignazio"],["dc.contributor.author","de Pedro-Cuesta, Jesús"],["dc.contributor.author","Calero, Miguel"],["dc.contributor.author","Geschwind, Michael D."],["dc.contributor.author","Yamada, Masahito"],["dc.contributor.author","Nakamura, Yosikazu"],["dc.contributor.author","Mead, Simon"],["dc.date.accessioned","2020-12-10T18:41:46Z"],["dc.date.available","2020-12-10T18:41:46Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1212/WNL.0000000000007745"],["dc.identifier.eissn","1526-632X"],["dc.identifier.issn","0028-3878"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77669"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Age at onset in genetic prion disease and the design of preventive clinical trials"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","119"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal of Neurology Neurosurgery & Psychiatry"],["dc.bibliographiccitation.lastpage","125"],["dc.bibliographiccitation.volume","88"],["dc.contributor.author","Varges, Daniel. A."],["dc.contributor.author","Manthey, Henrike"],["dc.contributor.author","Heinemann, Uta"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Schmitz, Matthias"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Krasnianski, Anna"],["dc.contributor.author","Breithaupt, Maren"],["dc.contributor.author","Fincke, Fabian"],["dc.contributor.author","Kramer, Katharina"],["dc.contributor.author","Friede, Tim"],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2018-11-07T10:28:06Z"],["dc.date.available","2018-11-07T10:28:06Z"],["dc.date.issued","2017"],["dc.description.abstract","Objectives The main objective of the present study is to study the therapeutic efficiency of doxycycline in a double-blinded randomised phase II study in a cohort of patients with sporadic Creutzfeldt-Jakob disease (sCJD). Methods From the National Reference Center of TSE Surveillance in Germany, patients with probable or definite sCJD were recruited for a double-blinded randomised study with oral doxycycline (EudraCT 2006-003934-14). In addition, we analysed the data from patients with CJD who received compassionate treatment with doxycycline in a separate group. Potential factors which influence survival such as age at onset, gender, codon 129 polymorphism and cognitive functions were evaluated. The primary outcome measure was survival. Results Group 1: in the double-blinded randomised phase II study, 7 patients in the treatment group were compared with 5 controls. Group 2: 55 patients with sCJD treated with oral doxycycline were analysed and compared with 33 controls by a stratified propensity score applied to a Cox proportional hazard analysis. The results of both studies were combined by means of a random-effects meta-analysis. A slight increase in survival time in the doxycycline treatment group was observed (p=0.049, HR=0.63 (95% CI 0.402 to 0.999)). Conclusions On the basis of our studies, a larger trial of doxycycline should be performed in persons in the earliest stages of CJD."],["dc.identifier.doi","10.1136/jnnp-2016-313541"],["dc.identifier.isi","000393903700007"],["dc.identifier.pmid","27807198"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/43348"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Bmj Publishing Group"],["dc.relation.issn","1468-330X"],["dc.relation.issn","0022-3050"],["dc.title","Doxycycline in early CJD: a double-blinded randomised phase II and observational study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2004"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Neurobiology of Aging"],["dc.bibliographiccitation.lastpage","U20"],["dc.bibliographiccitation.volume","36"],["dc.contributor.author","Lukic, Ana"],["dc.contributor.author","Uphill, James"],["dc.contributor.author","Brown, Craig A."],["dc.contributor.author","Beck, John"],["dc.contributor.author","Poulter, Mark"],["dc.contributor.author","Campbell, Tracy"],["dc.contributor.author","Adamson, Gary"],["dc.contributor.author","Hummerich, Holger"],["dc.contributor.author","Whitfield, Jerome"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Lloyd, Sarah E."],["dc.contributor.author","Collinge, John"],["dc.contributor.author","Mead, Simon"],["dc.date.accessioned","2018-11-07T09:57:39Z"],["dc.date.available","2018-11-07T09:57:39Z"],["dc.date.issued","2015"],["dc.description.abstract","Prion diseases are a diverse group of neurodegenerative conditions, caused by the templated misfolding of prion protein. Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other variants have been suggested to confer risk in the most common type, sporadic Creutzfeldt-Jakob disease (sCJD) or in the acquired prion diseases. Large and rare copy number variants (CNVs) are known to confer risk in several related disorders including Alzheimer's disease (at APP), schizophrenia, epilepsy, mental retardation, and autism. Here, we report the first genome-wide analysis for CNV-associated risk using data derived from a recent international collaborative association study in sCJD (n = 1147 after quality control) and publicly available controls (n = 5427). We also investigated UK patients with variant Creutzfeldt-Jakob disease (n = 114) and elderly women from the Eastern Highlands of Papua New Guinea who proved highly resistant to the epidemic prion disease kuru, who were compared with healthy young Fore population controls (n = 395). There were no statistically significant alterations in the burden of CNVs >100, >500, or >1000 kb, duplications, or deletions in any disease group or geographic region. After correction for multiple testing, no statistically significant associations were found. A UK blood service control sample showed a duplication CNV that overlapped PRNP, but these were not found in prion disease. Heterozygous deletions of a 30 region of the PARK2 gene were found in 3 sCJD patients and no controls (p = 0.001, uncorrected). A cell-based prion infection assay did not provide supportive evidence for a role for PARK2 in prion disease susceptibility. These data are consistent with a modest impact of CNVs on risk of late-onset neurologic conditions and suggest that, unlike APP, PRNP duplication is not a causal high-risk mutation. (C) 2015 Elsevier Inc. All rights reserved."],["dc.identifier.doi","10.1016/j.neurobiolaging.2015.01.011"],["dc.identifier.isi","000355100900021"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37209"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Inc"],["dc.relation.issn","1558-1497"],["dc.relation.issn","0197-4580"],["dc.title","Rare structural genetic variation in human prion diseases"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","187"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","European Journal of Epidemiology"],["dc.bibliographiccitation.lastpage","196"],["dc.bibliographiccitation.volume","31"],["dc.contributor.author","Krasnianski, Anna"],["dc.contributor.author","Heinemann, Uta"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Kortt, Jasmine"],["dc.contributor.author","Kallenberg, Kai"],["dc.contributor.author","Varges, Daniel. A."],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.contributor.author","Kretzschmar, Hans A."],["dc.contributor.author","Zerr, Inga"],["dc.date.accessioned","2018-11-07T10:17:13Z"],["dc.date.available","2018-11-07T10:17:13Z"],["dc.date.issued","2016"],["dc.description.abstract","To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 patients (28 D178N, 20 E200K, 17 inserts, 13 V210I, 8 P102L, 5 E196K). Dementia (35 %) and ataxia (29 %) were the most common initial symptoms and signs. A wide variety and high frequency of neurological/psychiatric symptoms and signs was found during disease course in all patients independently of the type of the mutation. Psychiatric manifestations were frequent (87 %). Neuropsychological abnormalities were observed in 67 %, and aphasia was the most common disturbance (45 %). In E200K, V210I and D178N patients, visual/oculomotor deficits were followed by ataxia early in the disease. Dementia followed by ataxia at onset was common in patients with insert and E196K mutation. P102L patients had isolated ataxia over a longer time period followed by pyramidal signs. Dementia was present only late in the disease course. All clinical routine tests such as MRI, EEG and CSF tests were less sensitive than in sporadic CJD. We provide the first detailed analysis of clinical signs and symptoms in a large group of patients with gPD. Frequency of clinical symptoms and signs was similar in different mutations in a later disease course, but the sequence of occurrence may be of great diagnostic importance. CSF markers were shown to be more sensitive than MRI and EEG."],["dc.identifier.doi","10.1007/s10654-015-0049-y"],["dc.identifier.isi","000373568800009"],["dc.identifier.pmid","26076917"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41187"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1573-7284"],["dc.relation.issn","0393-2990"],["dc.title","Clinical findings and diagnosis in genetic prion diseases in Germany"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","371"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","382"],["dc.bibliographiccitation.volume","95"],["dc.contributor.author","Minikel, Eric Vallabh"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Collins, Steven J."],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Boyd, Alison"],["dc.contributor.author","Klug, Genevieve M. J. A."],["dc.contributor.author","Karch, Andre"],["dc.contributor.author","Kenny, Joanna"],["dc.contributor.author","Collinge, John"],["dc.contributor.author","Takada, Leonel T."],["dc.contributor.author","Forner, Sven"],["dc.contributor.author","Fong, Jamie C."],["dc.contributor.author","Mead, Simon"],["dc.contributor.author","Geschwind, Michael D."],["dc.date.accessioned","2018-11-07T09:33:47Z"],["dc.date.available","2018-11-07T09:33:47Z"],["dc.date.issued","2014"],["dc.description.abstract","Anticipation is the phenomenon whereby age of onset in genetic disease decreases in successive generations. Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G>A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein. If confirmed, this finding would carry clear implications for genetic counseling. We analyzed pedigrees with this mutation from four prion centers worldwide (n = 217 individuals with the mutation) to analyze age of onset and death in affected and censored individuals. We show through simulation that selective ascertainment of individuals whose onset falls within the historical window since the mutation's 1989 discovery is sufficient to create robust false signals both of anticipation and of heritability of age of onset. In our data set, the number of years of anticipation observed depends upon how strictly the data are limited by the ascertainment window. Among individuals whose disease was directly observed at a study center, a 28-year difference between parent and child age of onset is observed (p = 0.002), but including individuals ascertained retrospectively through family history reduces this figure to 7 years (p = 0.005). Applying survival analysis to the most thoroughly ascertained subset of data eliminates the signal of anticipation. Moreover, even non-CJD deaths exhibit 16 years anticipation (p = 0.002), indicating that ascertainment bias can entirely explain observed anticipation. We suggest that reports of anticipation in genetic prion disease are driven entirely by ascertainment bias. Guidelines for future studies claiming statistical evidence for anticipation are suggested."],["dc.identifier.doi","10.1016/j.ajhg.2014.09.003"],["dc.identifier.isi","000342654300003"],["dc.identifier.pmid","25279981"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32045"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Cell Press"],["dc.relation.issn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease"],["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","7"],["dc.contributor.author","Manthey, Henrike"],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Finke, Felix"],["dc.contributor.author","Karch, A."],["dc.contributor.author","Zerr, I."],["dc.date.accessioned","2018-11-07T09:26:13Z"],["dc.date.available","2018-11-07T09:26:13Z"],["dc.date.issued","2013"],["dc.format.extent","67"],["dc.identifier.isi","000323217500153"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30247"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Landes Bioscience"],["dc.publisher.place","Austin"],["dc.relation.issn","1933-6896"],["dc.title","Doxycyclin is prolonging life in patients with CJD"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","602"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Alzheimer s & Dementia"],["dc.bibliographiccitation.lastpage","608"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Slattery, Catherine F."],["dc.contributor.author","Beck, Jonathan A."],["dc.contributor.author","Harper, Lorna"],["dc.contributor.author","Adamson, Gary"],["dc.contributor.author","Abdi, Zeinab"],["dc.contributor.author","Uphill, James"],["dc.contributor.author","Campbell, Tracy"],["dc.contributor.author","Druyeh, Ron"],["dc.contributor.author","Mahoney, Colin J."],["dc.contributor.author","Rohrer, Jonathan D."],["dc.contributor.author","Kenny, Janna"],["dc.contributor.author","Lowe, Jessica"],["dc.contributor.author","Leung, Kelvin K."],["dc.contributor.author","Barnes, Josephine"],["dc.contributor.author","Clegg, Shona L."],["dc.contributor.author","Blair, Melanie"],["dc.contributor.author","Nicholas, Jennifer M."],["dc.contributor.author","Guerreiro, Rita J."],["dc.contributor.author","Rowe, James B."],["dc.contributor.author","Ponto, Claudia"],["dc.contributor.author","Zerr, Inga"],["dc.contributor.author","Kretzschmar, Hans A."],["dc.contributor.author","Gambetti, Pierluigi"],["dc.contributor.author","Crutch, Sebastian J."],["dc.contributor.author","Warren, Jason D."],["dc.contributor.author","Rossor, Martin N."],["dc.contributor.author","Fox, Nick C."],["dc.contributor.author","Collinge, John"],["dc.contributor.author","Schott, Jonathan M."],["dc.contributor.author","Mead, Simon"],["dc.date.accessioned","2018-11-07T09:32:52Z"],["dc.date.available","2018-11-07T09:32:52Z"],["dc.date.issued","2014"],["dc.description.abstract","Background: Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD). Methods: We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD). Results: We confirm only p.R47H as a risk factor for AD (odds ratio or OR = 2.19; 95% confidence interval or CI = 1.04-4.51; P =.03). p.R47H does not significantly alter risk for frontotemporal dementia (OR = 0.81), variant or sporadic CJD (OR = 1.06 95%CI = 0.66-1.69) in our cohorts. Individuals with p.R47H associated AD (n = 12) had significantly earlier symptom onset than individuals with no TREM2 variants (n = 551) (55.2 years vs. 61.7 years, P = .02). We note that heterozygous p.R47H AD is memory led and otherwise indistinguishable from \"typical\" sporadic AD. Conclusion: We find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease. (C) 2014 The Alzheimer's Association. All rights reserved."],["dc.identifier.doi","10.1016/j.jalz.2014.05.1751"],["dc.identifier.isi","000345310800004"],["dc.identifier.pmid","25160042"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31839"],["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","R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]