D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.59
C. Landles, Georgina F Osborne, Rebecca E Milton, Alexandre Jean, Stuart J McLarnon, Chuangchuang Zhang, W. Duan, G. Bates
{"title":"D03 Novel bioassays to detect soluble and aggregated isoforms of the huntingtin protein on three technology platforms","authors":"C. Landles, Georgina F Osborne, Rebecca E Milton, Alexandre Jean, Stuart J McLarnon, Chuangchuang Zhang, W. Duan, G. Bates","doi":"10.1136/jnnp-2022-ehdn.59","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.59","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123668115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.67
N. E. Tunalı, Ezgi Keske
{"title":"D11 miR-122 dysregulation IN siRNA-treated in vitro cell model of Huntington’s disease","authors":"N. E. Tunalı, Ezgi Keske","doi":"10.1136/jnnp-2022-ehdn.67","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.67","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125995658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.73
A. Neueder, Philipp Nitzschner, Ronja Wagner, Julia Hummel, Franziska Hoschek, Maximilian Wagner, Alshaimaa Abdelmoez, B. Einem, S. Tabrizi, M. Orth
{"title":"D17 Extracellular vesicles biology in huntington disease","authors":"A. Neueder, Philipp Nitzschner, Ronja Wagner, Julia Hummel, Franziska Hoschek, Maximilian Wagner, Alshaimaa Abdelmoez, B. Einem, S. Tabrizi, M. Orth","doi":"10.1136/jnnp-2022-ehdn.73","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.73","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"432 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122874778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.68
M. Pellegrini, Dilara Ayyildiz, G. Bergonzoni, A. Monziani, T. Tripathi, J. Döring, Giulia Cardamone, E. Kerschbamer, F. Di Leva, F. Perrone, MP Abruzzese, LC Busi, R. Asselta, E. Pennati, L. Donini, J. Zasso, L. Conti, V. Wheeler, C. Dieterich, Silvano Piazza, E. Dassi, F. Squitieri, M. Biagioli
{"title":"D12 Faulty linear and back-splicing in Huntington’s disease: novel players in the pathologic process hint at innovative RNA biomarkers","authors":"M. Pellegrini, Dilara Ayyildiz, G. Bergonzoni, A. Monziani, T. Tripathi, J. Döring, Giulia Cardamone, E. Kerschbamer, F. Di Leva, F. Perrone, MP Abruzzese, LC Busi, R. Asselta, E. Pennati, L. Donini, J. Zasso, L. Conti, V. Wheeler, C. Dieterich, Silvano Piazza, E. Dassi, F. Squitieri, M. Biagioli","doi":"10.1136/jnnp-2022-ehdn.68","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.68","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122502807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.64
Fiona C Kinsella, L. Byrne, F. B. Rodrigues, E. Johnson, E. Vita, D. Alexander, G. Palermo, R. Scahill, A. Heslegrave, Henrik Zetterberg, E. Wild
{"title":"D08 Elevated GFAP and UCHL-1 in plasma and CSF in HD","authors":"Fiona C Kinsella, L. Byrne, F. B. Rodrigues, E. Johnson, E. Vita, D. Alexander, G. Palermo, R. Scahill, A. Heslegrave, Henrik Zetterberg, E. Wild","doi":"10.1136/jnnp-2022-ehdn.64","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.64","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116783730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.77
Marie K Bondulich, L. Byrne, Arzo Iqbal, Iulia M Nita, María Cañibano-Pico, Jemima M Phillips, E. Wild, G. Bates
{"title":"D21 Analysis of blood and CSF biomarkers in mouse models of Huntington’s disease","authors":"Marie K Bondulich, L. Byrne, Arzo Iqbal, Iulia M Nita, María Cañibano-Pico, Jemima M Phillips, E. Wild, G. Bates","doi":"10.1136/jnnp-2022-ehdn.77","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.77","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130253401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.70
M. Fichera, L. Nanetti, Monica Favagrossa, A. Castaldo, A. Nigri, A. Mongelli, Gloria Marchini, C. Gellera, M. Grisoli, Giulia Birolini, M. Valenza, R. Bagnati, A. Passoni, L. Colombo, E. Cattaneo, M. Salmona, C. Mariotti
{"title":"D14 Plasma levels of 24S-hydroxycholesterol are reduced in Huntington disease subjects: preliminary results of a 2-year longitudinal study","authors":"M. Fichera, L. Nanetti, Monica Favagrossa, A. Castaldo, A. Nigri, A. Mongelli, Gloria Marchini, C. Gellera, M. Grisoli, Giulia Birolini, M. Valenza, R. Bagnati, A. Passoni, L. Colombo, E. Cattaneo, M. Salmona, C. Mariotti","doi":"10.1136/jnnp-2022-ehdn.70","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.70","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127967404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.69
F. Qvist, M. N. Hellem, J. E. Nielsen, M. Mann, N. Skotte
{"title":"D13 Saliva biomarker discovery in Huntington’s disease","authors":"F. Qvist, M. N. Hellem, J. E. Nielsen, M. Mann, N. Skotte","doi":"10.1136/jnnp-2022-ehdn.69","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.69","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131261730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2022-09-01DOI: 10.1136/jnnp-2022-ehdn.62
L. Byrne, J. Schultz, Sophie Field, Kate Fayer, Yara Y. Hassan, F. B. Rodrigues, Ellen van der Plas, D. Langbehn, S. Tabrizi, P. Nopoulos, E. Wild
{"title":"D06 Influencing Huntington’s disease monitoring and therapeutic development with remote quantification of blood neurofilament light protein","authors":"L. Byrne, J. Schultz, Sophie Field, Kate Fayer, Yara Y. Hassan, F. B. Rodrigues, Ellen van der Plas, D. Langbehn, S. Tabrizi, P. Nopoulos, E. Wild","doi":"10.1136/jnnp-2022-ehdn.62","DOIUrl":"https://doi.org/10.1136/jnnp-2022-ehdn.62","url":null,"abstract":"","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"260 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115592984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D: Wet biomarkersPub Date : 2021-09-01DOI: 10.1136/jnnp-2021-ehdn.35
A. Tanghe, Lentel Pringels, Tom Vandooren, G. Griffioen
{"title":"D04 Blood glucose and insulin levels following an oral glucose challenge are promising biomarkers in the zQ175 knock-in mouse model of huntington’s disease","authors":"A. Tanghe, Lentel Pringels, Tom Vandooren, G. Griffioen","doi":"10.1136/jnnp-2021-ehdn.35","DOIUrl":"https://doi.org/10.1136/jnnp-2021-ehdn.35","url":null,"abstract":"Background The neurological impairments that typify Huntington’s disease (HD) are caused by neurotoxic effects of mutant Huntingtin in striatum and cerebral cortex. Huntington patients however also suffer from non-motor symptoms, including metabolic alterations. Interestingly, the latter symptoms typically set on several years before the motor symptoms. Dysfunction of the hypothalamus, the brain part that controls energy balance by integrating both central and peripheral signals, is postulated to be at least partly responsible for these non-motor symptoms, in mice and humans (Hult et al., 2011; Petersen and Bjorkvqvist, 2006). Aim We set out to explore the potential of metabolic parameters as biomarkers and surrogate endpoints for assessing the efficacy of experimental Huntington therapies in the zQ175 knock-in mouse model. Method The zQ175 model faithfully recapitulates many of the clinical phenotypes of HD in the absence of overexpression artefacts (Menalled et al., 2021). We subjected these mice to an oral glucose tolerance test (OGTT), entailing the measurement of blood glucose levels and insulin secretion levels at different time-points post oral glucose administration. Result When challenged with glucose in an OGTT, zQ175 mice show prolonged blood glucose levels and lower insulin secretion levels compared to wild type controls. In homozygous mice these deficits were observed at younger age than in heterozygous mice, in line with the more aggressive progression of pathology development. Deregulation of glucose metabolism is also manifest from the observation that the zQ175 mice drink more than control mice. Conclusion These metabolic parameters entail clinically compliant read-outs for diagnostic purposes of disease onset and progression in carriers with extended CAG repeat Huntingtin, as well as surrogate endpoints to assess therapies both in preclinical models and subsequently in patients aimed at countering neuronal toxicity of pathological Huntingtin.","PeriodicalId":318593,"journal":{"name":"D: Wet biomarkers","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132268800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}