Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia

Babayan A, Erbey M, Kumral D et al (2019) A mind-brain-body dataset of MRI, EEG, cognition, emotion, and peripheral physiology in young and old adults. Sci Data 6:180308. https://doi.org/10.1038/sdata.2018.308 Bigdely-Shamlo N, Mullen T, Kothe C, Su KM, Robbins KA (2015) The PREP pipeline: standardized preprocessing for large-scale EEG analysis. Front Neuroinform 18(9):16. https://doi.org/10.3389/fninf.2015.00016 Franciotti R, Pilotto A, Moretti DV, Falasca NW, Arnaldi D, Taylor JP, Nobili F, Kramberger M, Ptacek SG, Padovani A, Aarlsand D, Onofrj M, Bonanni L, E-DLB consortium (2020) Anterior EEG slowing in dementia with Lewy bodies: a multicenter European cohort study. Neurobiol Aging 93:55–60. https://doi.org/10.1016/j.neurobiolaging.2020.04.023 Donoghue T, Haller M, Peterson EJ, Varma P, Sebastian P, Gao R, Noto T, Lara AH, Wallis JD, Knight RT, Shestyuk A, Voytek B (2020) Parameterizing neural power spectra into periodic and aperiodic components. Nat Neurosci 23:1655–1665. https://doi.org/10.1038/s41593-020-00744-x Gramfort A, Luessi M, Larson E, Engemann DA, Strohmeier D, Brodbeck C, Goj R, Jas M, Brooks T, Parkkonen L, Hämäläinen M (2013) MEG and EEG data analysis with MNE-Python. Front Neurosci 26(7):267. https://doi.org/10.3389/fnins.2013.00267 Govaarts R, Beeldman E, Fraschini M et al (2022) Cortical and subcortical changes in resting-state neuronal activity and connectivity in early symptomatic ALS and advanced frontotemporal dementia. NeuroImage Clin 34:102965. https://doi.org/10.1016/j.nicl.2022.102965 Klünemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, De Bleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J (2005) The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology 64(9):1502–1507. https://doi.org/10.1212/01.WNL.0000160304.00003.CA Konishi H, Kiyama H (2018) Microglial TREM2/DAP12 Signaling: A Double-Edged Sword in Neural Diseases. Front Cell Neurosci 6(12):206. https://doi.org/10.3389/fncel.2018.00206 Nishida K, Yoshimura M, Isotani T, Yoshida T, Kitaura Y, Saito A, Mii H, Kato M, Takekita Y, Suwa A, Morita S, Kinoshita T (2011) Differences in quantitative EEG between frontotemporal dementia and Alzheimer’s disease as revealed by LORETA. Clin Neurophysiol 122(9):1718–1725. https://doi.org/10.1016/j.clinph.2011.02.011 Paloneva J, Autti T, Hakola P, Haltia MJ. Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy. 2002 Jan 24 [updated 2020 Dec 10]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, (eds) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023 Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, Haltia M, Konttinen YT, Peltonen L (2003) DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. J Exp Med 198(4):669–675. https://doi.org/10.1084/jem.20030027 Thrash JC, Torbett BE, Carson MJ (2009) Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease. Neurochem Res 34(1):38–45. https://doi.org/10.1007/s11064-008-9657-1 Yang J, Fu Z, Zhang X, Xiong M, Meng L, Zhang Z (2020) TREM2 ectodomain and its soluble form in Alzheimer’s disease. J Neuroinflammation 17(1):204. https://doi.org/10.1186/s12974-020-01878-2 Wang Y, Cella M, Mallinson K, Ulrich JD, Young KL, Robinette ML, Gilfillan S, Krishnan GM, Sudhakar S, Zinselmeyer BH, Holtzman DM, Cirrito JR, Colonna M (2015) TREM2 lipid sensing sustains the microglial response in an Alzheimer’s disease model. Cell 160(6):1061–71. https://doi.org/10.1016/j.cell.2015.01.049 Wunderlich P, Glebov K, Kemmerling N, Tien NT, Neumann H, Walter J (2013) Sequential proteolytic processing of the triggering receptor expressed on myeloid cells-2 (TREM2) protein by ectodomain shedding and γ-secretase-dependent intramembranous cleavage. J Biol Chem 288(46):33027–36. https://doi.org/10.1074/jbc.M113.517540