1. Berdyński M, Ludwiczak J, Barczak A, Barcikowska-Kotowicz M, Kuźma-Kozakiewicz M, Dunin-Horkawicz S, Żekanowski C, Borzemska B. TREM2 gene compound heterozygosity in neurodegenerative disorders. J Alzheimers Dis 2022; 89: 1211-1219.
2.
Buthut M, Reber P, Siebert E, Eisenhut K, Thaler F, Finck J, Soekadar SR, Prüss H. Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia. Neurol Sci 2023; 44: 2581-2585.
3.
Chouery E, Delague V, Bergougnoux A, Koussa S, Serre J-L, Mégarbané A. Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum Mutat 2008; 29: E194-204.
4.
Csaban D, Illes A, Renata T-B, Balicza P, Pentelenyi K, Molnar V, Gezsi A, Grosz Z, Gal A, Kovacs T, Klivenyi P, Molnar MJ. Genetic landscape of early-onset dementia in Hungary. Neurol Sci 2022; 43: 5289-5300.
5.
Dardiotis E, Siokas V, Pantazi E, Dardioti M, Rikos D, Xiromerisiou G, Markou A, Papadimitriou D, Speletas M, Hadjigeorgiou GM. A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature. Neurobiol Aging 2017; 53: 194.e13-194.e22.
6.
Folstein MF, Folstein SE, McHugh PR. “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189-198.
7.
Gabryelewicz T, Pawłowska-Detko A, Miśko J, Cwikła JB, Pfeffer A, Barczak A, Wasiak B, Łuczywek E, Królicki L, Walecki J, Barcikowska M. Prediction of deterioration of mild cognitive impairment with CT and SPECT. Med Sci Monit 2007; 13: 31-37.
8.
Giraldo M, Lopera F, Siniard AL, Corneveaux JJ, Schrauwen I, Carvajal J, Muñoz C, Ramirez-Restrepo M, Gaiteri C, Myers AJ, Caselli RJ, Kosik KS, Reiman EM, Huentelman MJ. Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer’s disease. Neurobiol Aging 2013; 34: 2077.e11-2077.e18
9.
Greaves CV, Rohrer JD. An update on genetic frontotemporal dementia. J Neurol 2019; 266: 2075-2086.
10.
Guerreiro R, Bilgic B, Guven G, Brás J, Rohrer J, Lohmann E, Hanagasi H, Gurvit H, Emre M. Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol Aging 2013; 34: 2890.e1-5.
11.
Guerreiro R, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol 2013; 70: 78-84
12.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. TREM2 variants in Alzheimer’s disease. N Engl J Med 2013; 368: 117-127.
13.
Jay TR, von Saucken VE, Landreth GE. TREM2 in neurodegenerative diseases. Mol Neurodegener 2017; 12: 56.
14.
Katisko K, Cajanus A, Korhonen T, Remes AM, Haapasalo A, Solje E. Prodromal and early bvFTD: evaluating clinical features and current biomarkers. Front Neurosci 2019; 13: 658.
15.
Kleinberger G, Brendel M, Mracsko E, Wefers B, Groeneweg L, Xiang X, Focke C, Deußing M, Suárez-Calvet M, Mazaheri F, Parhizkar S, Pettkus N, Wurst W, Feederle R, Bartenstein P, Mueggler T, Arzberger T, Knuesel I, Rominger A, Haass C. The FTD-like syndrome causing TREM2 T66M mutation impairs microglia function, brain perfusion, and glucose metabolism. EMBO J 2017; 36: 1837-1853.
16.
Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C. TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Sci Transl Med 2014; 6: 243ra86.
17.
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. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology 2005; 64: 1502-1507.
18.
Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol Aging 2014; 35: 2419.e23-2419.e25.
19.
Lezak MD, Howieson DB, Bigler ED, Tranel D. Neuropsychological Assessment, 5th Edn. Oxford University Press, New York 2012.
20.
Li X, Sun Y, Gong L, Zheng L, Chen K, Zhou Y, Gu Y, Xu Y, Guo Q, Hong Z, Ding D, Fu J, Zhao Q. A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement. Neurobiol Aging 2020; 86: 201.e1-201.e7.
21.
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998; 51: 1546-1554.
22.
Ng ASL, Tan YJ, Yi Z, Tandiono M, Chew E, Dominguez J, Macas M, Ng E, Hameed S, Ting S, Tan EK, Foo JN, Kandiah N. Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. Neurobiol Aging 2018; 68: 160.e15-160.e19.
23.
Ogonowski N, Santamaria-Garcia H, Baez S, Lopez A, LasernaA, Garcia-Cifuentes E, Ayala-Ramirez P, Zarante I, Suarez-Obando F, Reyes P, Kauffman M, Cochran N, Schulte M, Sirkis DW, Spina S, Yokoyama JS, Miller BL, Kosik KS, Matallana D, Ibáñez A. Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2. J Med Genet 2023; 60: 894-904.
24.
Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet 2002; 71: 656-662.
25.
Peplonska B, Berdynski M, Mandecka M, Barczak A, KuzmaKozakiewicz M, Barcikowska M, Zekanowski C. TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients. Amyotroph Lateral Scler Frontotemporal Degener 2018; 19: 407-412.
26.
Piccio L, Deming Y, Del-Águila JL, Ghezzi L, Holtzman DM, Fagan AM, Fenoglio C, Galimberti D, Borroni B, Cruchaga C. Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status. Acta Neuropathol 2016; 131: 925-933.
27.
Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011; 134: 2456-2477.
28.
Rohn TT. The triggering receptor expressed on myeloid cells 2: “TREM-ming” the inflammatory component associated with Alzheimer’s disease. Oxid Med Cell Longev 2013; 2013: 860959.
29.
Samanci B, Bilgiç B, Gelişin Ö, Tepgeç F, Guven G, Tüfekçioğlu Z, Alaylıoğlu M, Hanagasi HA, Gürvit H, Guerreiro R, Hardy J, Emre M. TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features. Eur J Neurol 2021; 28: 2603-2613.
30.
Snowden JS, Harris JM, Saxon JA, Thompson JC, Richardson AM, Jones M, Kobylecki C. Naming and conceptual understanding in frontotemporal dementia. Cortex 2019; 120: 22-35.
31.
Song W, Hooli B, Mullin K, Jin SC, Cella M, Ulland TK, Wang Y, Tanzi RE, Colonna M. Alzheimer’s disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation. Alzheimers Dement 2017; 13: 381-387.
