van der Ende EL, van Swieten JC. Fluid biomarkers of frontotemporal lobar degeneration. Adv Exp Med Biol. 2021;1281:123–39.

Article  PubMed  Google Scholar 

Bridel C, van Wieringen WN, Zetterberg H, Tijms BM, Teunissen CE, Alvarez-Cermeño JC, et al. Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: a systematic review and meta-analysis. JAMA Neurol. 2019;76(9):1035–48.

Article  PubMed  PubMed Central  Google Scholar 

van der Ende EL, Xiao M, Xu D, Poos JM, Panman JL, Jiskoot LC, et al. Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2020;91(6):612–21.

Article  PubMed  Google Scholar 

Sleegers K, Brouwers N, Van Damme P, Engelborghs S, Gijselinck I, van der Zee J, et al. Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann Neurol. 2009;65(5):603–9.

Article  CAS  PubMed  Google Scholar 

Heller C, Foiani MS, Moore K, Convery R, Bocchetta M, Neason M, et al. Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2020;91(3):263–70.

Article  PubMed  Google Scholar 

Foiani MS, Woollacott IO, Heller C, Bocchetta M, Heslegrave A, Dick KM, et al. Plasma tau is increased in frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2018;89(8):804–7.

Article  PubMed  Google Scholar 

Rojas JC, Wang P, Staffaroni AM, Heller C, Cobigo Y, Wolf A, et al. Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration. Neurology. 2021May 4;96(18):e2296–312.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Johansson C, Thordardottir S, Laffita-Mesa J, Rodriguez-Vieitez E, Zetterberg H, Blennow K, Graff C. Plasma biomarker profiles in autosomal dominant Alzheimer’s disease. Brain. 2023;146(3):1132–40.

Article  PubMed  PubMed Central  Google Scholar 

Leuzy A, Cullen NC, Mattsson-Carlgren N, Hansson O. Current advances in plasma and cerebrospinal fluid biomarkers in Alzheimer’s disease. Curr Opin Neurol. 2021;34(2):266–74.

Article  CAS  PubMed  Google Scholar 

Mofrad RB, Del Campo M, Peeters CFW, Meeter LHH, Seelaar H, Koel-Simmelink M, et al. Plasma proteome profiling identifies changes associated to AD but not to FTD. Acta Neuropathol Commun. 2022;10(1):148.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rohrer JD, Nicholas JM, Cash DM, van Swieten J, Dopper E, Jiskoot L, et al. Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis. Lancet Neurol. 2015;14(3):253–62.

Article  PubMed  PubMed Central  Google Scholar 

Schwenk JM, Igel U, Neiman M, Langen H, Becker C, Bjartell A, et al. Toward next generation plasma profiling via heat-induced epitope retrieval and array-based assays. Mol Cell Proteomics. 2010;9(11):2497–507.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schwenk JM, Gry M, Rimini R, Uhlén M, Nilsson P. Antibody suspension bead arrays within serum proteomics. J Proteome Res. 2008;7(8):3168–79.

Article  CAS  PubMed  Google Scholar 

Remnestål J, Just D, Mitsios N, Fredolini C, Mulder J, Schwenk JM, et al. CSF profiling of the human brain enriched proteome reveals associations of neuromodulin and neurogranin to Alzheimer’s disease. Proteomics Clin Appl. 2016;10(12):1242–53.

Article  PubMed  PubMed Central  Google Scholar 

Remnestål J, Öijerstedt L, Ullgren A, Olofsson J, Bergström S, Kultima K, et al. Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers. Transl Neurodegener. 2020;9(1):27.

Article  PubMed  PubMed Central  Google Scholar 

Bergström S, Öijerstedt L, Remnestål J, Olofsson J, Ullgren A, Seelaar H, et al. A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study. Mol Neurodegener. 2021;16(1):79.

Article  PubMed  PubMed Central  Google Scholar 

Sjöstedt E, Zhong W, Fagerberg L, Karlsson M, Mitsios N, Adori C, et al. An atlas of the protein-coding genes in the human, pig, and mouse brain. Science. 2020;367(6482):eaay5947.

Article  PubMed  Google Scholar 

R Core Team. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2022. https://www.R-project.org/.

Hong MG, Lee W, Nilsson P, Pawitan Y, Schwenk JM. Multidimensional normalization to minimize plate effects of suspension bead array data. J Proteome Res. 2016;15(10):3473–80.

Article  CAS  PubMed  Google Scholar 

Voevodskaya O, Simmons A, Nordenskjöld R, Kullberg J, Ahlström H, Lind L, et al. The effects of intracranial volume adjustment approaches on multiple regional MRI volumes in healthy aging and Alzheimer’s disease. Front Aging Neurosci. 2014;7(6):264.

Google Scholar 

Bates D, Mächler M, Bolker B, Walker S. Fitting linear mixed-effects models using lme4. J Stat Softw. 2015;67(1):1–48. https://doi.org/10.18637/jss.v067.i01.

Article  Google Scholar 

Kuznetsova A, Brockhoff PB, Christensen RHB. lmerTest Package: Tests in Linear Mixed Effects Models. J Stat Softw. 2017;82(13):1–26.

Article  Google Scholar 

Sogorb-Esteve A, Nilsson J, Swift IJ, Heller C, Bocchetta M, Russell LL, et al. Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimers Res Ther. 2022;14(1):118.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van der Ende EL, Bron EE, Poos JM, Jiskoot LC, Panman JL, Papma JM, et al. A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia. Brain. 2022;145(5):1805–17.

Article  PubMed  Google Scholar 

Ferrari E, Scheggia D, Zianni E, Italia M, Brumana M, Palazzolo L, et al. Rabphilin-3A as a novel target to reverse α-synuclein-induced synaptic loss in Parkinson’s disease. Pharmacol Res. 2022;183:106375.

Article  CAS  PubMed  Google Scholar 

Tan MG, Lee C, Lee JH, Francis PT, Williams RJ, Ramírez MJ, et al. Decreased rabphilin 3A immunoreactivity in Alzheimer’s disease is associated with Aβ burden. Neurochem Int. 2014;64:29–36.

Article  CAS  PubMed  Google Scholar 

Woollacott IOC, Nicholas JM, Heller C, Foiani MS, Moore KM, Russell LL, et al. Cerebrospinal Fluid YKL-40 and Chitotriosidase Levels in Frontotemporal Dementia Vary by Clinical, Genetic and Pathological Subtype. Dement Geriatr Cogn Disord. 2020;49(1):56–76.

Article  CAS  PubMed  Google Scholar 

Ferretti MT, Iulita MF, Cavedo E, Chiesa PA, Schumacher Dimech A, Santuccione Chadha A, et al. Sex differences in Alzheimer disease - the gateway to precision medicine. Nat Rev Neurol. 2018;14(8):457–69.

Article  PubMed  Google Scholar 

Logroscino G, Piccininni M, Graff C, Hardiman O, Ludolph AC, Moreno F, et al. Incidence of syndromes associated with frontotemporal lobar degeneration in 9 European countries. JAMA Neurol. 2023;30:e225128.

Google Scholar