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Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neuroinflammation has been shown to be an important pathophysiological disease mechanism in frontotemporal dementia (FTD). This includes activation of microglia, a process that can be measured in life through assaying different glia\u2010derived biomarkers in cerebrospinal fluid. However, only a few studies so far have taken place in FTD, and even fewer focusing on the genetic forms of FTD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated the cerebrospinal fluid concentrations of TREM2, YKL\u201040 and chitotriosidase using immunoassays in 183 participants from the Genetic FTD Initiative (GENFI) study: 49 <jats:italic>C9orf72<\/jats:italic> (36 presymptomatic, 13 symptomatic), 49 <jats:italic>GRN<\/jats:italic> (37 presymptomatic, 12 symptomatic) and 23 <jats:italic>MAPT<\/jats:italic> (16 presymptomatic, 7 symptomatic) mutation carriers and 62 mutation\u2010negative controls. Concentrations were compared between groups using a linear regression model adjusting for age and sex, with 95% bias\u2010corrected bootstrapped confidence intervals. Concentrations in each group were correlated with the Mini\u2010Mental State Examination (MMSE) score using non\u2010parametric partial correlations adjusting for age. Age\u2010adjusted <jats:italic>z<\/jats:italic>\u2010scores were also created for the concentration of markers in each participant, investigating how many had a value above the 95th percentile of controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Only chitotriosidase in symptomatic <jats:italic>GRN<\/jats:italic> mutation carriers had a concentration significantly higher than controls. No group had higher TREM2 or YKL\u201040 concentrations than controls after adjusting for age and sex. There was a significant negative correlation of chitotriosidase concentration with MMSE in presymptomatic <jats:italic>GRN<\/jats:italic> mutation carriers. In the symptomatic groups, for TREM2 31% of <jats:italic>C9orf72<\/jats:italic>, 25% of <jats:italic>GRN<\/jats:italic>, and 14% of <jats:italic>MAPT<\/jats:italic> mutation carriers had a concentration above the 95<jats:sup>th<\/jats:sup> percentile of controls. For YKL\u201040 this was 8% <jats:italic>C9orf72<\/jats:italic>, 8% <jats:italic>GRN<\/jats:italic> and 0% <jats:italic>MAPT<\/jats:italic> mutation carriers, whilst for chitotriosidase it was 23% <jats:italic>C9orf72<\/jats:italic>, 50% <jats:italic>GRN<\/jats:italic>, and 29% <jats:italic>MAPT<\/jats:italic> mutation carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Although chitotriosidase concentrations in <jats:italic>GRN<\/jats:italic> mutation carriers were the only significantly raised glia\u2010derived biomarker as a group, a subset of mutation carriers in all three groups, particularly for chitotriosidase and TREM2, had elevated concentrations. Further work is required to understand the variability in concentrations and the extent of neuroinflammation across the genetic forms of FTD. However, the current findings suggest limited utility of these measures in forthcoming trials.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51672","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T07:40:27Z","timestamp":1665992427000},"page":"1764-1777","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp>CSF<\/scp> glial markers are elevated in a subset of patients with genetic frontotemporal dementia"],"prefix":"10.1002","volume":"9","author":[{"given":"Ione O. 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