Heterozygous TREM2 mutations in frontotemporal dementia

Neurobiology of Aging

Volumn 35, Issue 4, 2014, Pages 934.e7-934.e10

  Borroni, Barbara ^a   Ferrari, Francesca ^a   Galimberti, Daniela ^b   Nacmias, Benedetta ^c   Barone, Cinzia ^b   Bagnoli, Silvia ^c   Fenoglio, Chiara ^b   Piaceri, Irene ^c   Archetti, Silvana ^d   Bonvicini, Cristian ^e   Gennarelli, Massimo ^e   Turla, Marinella ^f   Scarpini, Elio ^b   Sorbi, Sandro ^c   Padovani, Alessandro ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d Brescia Civic Hospital   (Italy)

^e Neurobiology Laboratory   (Italy)

^f Vallecamonica Hospital   (Italy)

Author keywords

Frontotemporal dementia; Frontotemporal lobar degeneration; Mutation; Risk factor; TREM2

Indexed keywords

AGED; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE PREDISPOSITION; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE FREQUENCY; GENE FUNCTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL; Q33X GENE; R47H GENE; RISK FACTOR; S116C GENE; SEQUENCE ANALYSIS; T66M GENE; TREM2 GENE;

FRONTOTEMPORAL DEMENTIA; FRONTOTEMPORAL LOBAR DEGENERATION; MUTATION; RISK FACTOR; TREM2;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; COHORT STUDIES; EXONS; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; RECEPTORS, IMMUNOLOGIC;

EID: 85058205970     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.09.017     Document Type: Article

References (24)

1. Bock V., Botturi A., Gaviani P., Lamperti E., Maccagnano C., Piccio L., Silvani A., Salmaggi A. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. J.Neurol. Sci. 2013, 326:115-119.
2. Borroni B., Bonvicini C., Galimberti D., Tremolizzo L., Papetti A., Archetti S., Turla M., Alberici A., Agosti C., Premi E., Appollonio I., Rainero I., Ferrarese C., Gennarelli M., Scarpini E., Padovani A. Founder effect and estimation of the age of the progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration. Neurobiol. Aging 2011, 32(3):555.e1-555.e8.
3. Galimberti D., Fenoglio C., Serpente M., Villa C., Bonsi R., Arighi A., Fumagalli G.G., Del Bo R., Bruni A.C., Anfossi M., Clodomiro A., Cupidi C., Nacmias B., Sorbi S., Piaceri I., Bagnoli S., Bessi V., Marcone A., Cerami C., Cappa S.F., Filippi M., Agosta F., Magnani G., Comi G., Franceschi M., Rainero I., Giordana M., Rubino E., Ferrero P., Rogaeva E., Xi Z., Confaloni A., Piscopo P., Bruno G., Talarico G., Cagnin A., Clerici F., Dell'Osso B., Comi G.P., Altamura A.C., Mariani C., Scarpini E. Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation. Biol. Psychiatry 2013, 74:384-391.
4. Galimberti D., Scarpini E. Inflammation and oxidative damage in Alzheimer's disease: friend or foe?. Front. Biosci. (Schol. Ed.) 2011, 3:252-266.
5. Giraldo M., Lopera F., Siniard A.L., Corneveaux J.J., Schrauwen I., Carvajal J., Muñoz C., Ramirez-Restrepo M., Gaiteri C., Myers A.J., Caselli R.J., Kosik K.S., Reiman E.M., Huentelman M.J. 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.
6. Gorno-Tempini M.L., Hillis A.E., Weintraub S., Kertesz A., Mendez M., Cappa S.F., Ogar J.M., Rohrer J.D., Black S., Boeve B.F., Manes F., Dronkers N.F., Vandenberghe R., Rascovsky K., Patterson K., Miller B.L., Knopman D.S., Hodges J.R., Mesulam M.M., Grossman M. Classification of primary progressive aphasia and its variants. Neurology 2011, 76:1006-1014.
7. Guerreiro R.J., Lohmann E., Brás J.M., Gibbs J.R., Rohrer J.D., 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.
8. Guerreiro R., Wojtas A., Bras J., Carrasquillo M., Rogaeva E., Majounie E., Cruchaga C., Sassi C., Kauwe J.S., Younkin S., Hazrati L., Collinge J., Pocock J., Lashley T., Williams J., Lambert J.C., 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.
9. Guerreiro R., Bilgic B., Guven G., Brás J., Rohrer J., Lohmann E., Hanagasi H., Gurvit H., Emre M. Anovel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol. Aging 2013, 34:2890.e1-2890.e5.
10. Jonsson T., Stefansson H., Steinberg S., Jonsdottir I., Jonsson P.V., Snaedal J., Bjornsson S., Huttenlocher J., Levey A.I., Lah J.J., Rujescu D., Hampel H., Giegling I., Andreassen O.A., Engedal K., Ulstein I., Djurovic S., Ibrahim-Verbaas C., Hofman A., Ikram M.A., van Duijn C.M., Thorsteinsdottir U., Kong A., Stefansson K. Variant of TREM2 associated with the risk of Alzheimer's disease. N.Engl. J. Med. 2013, 368:107-116.
11. Lattante S., Le Ber I., Camuzat A., Dayan S., Godard C., Van Bortel I., De Septenville A., Ciura S., Brice A., Kabashi E., French Research Network on FTD and FTD-ALS TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia. Neurobiol. Aging 2013, 34:2443.e1-2443.e2.
12. McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease: report of the NIN CDS-ADRDA Work Group under the auspices of Department of Health and Human Services Tasks Force on Alzheimer's Disease. Neurology 1984, 34:939-944.
13. Neumann H., Daly M.J. Variant TREM2 as risk factor for Alzheimer's disease. N.Engl. J. Med. 2013, 368:182-184.
14. Paloeva J., Autti T., Raininko R., Partanen J., Salonen O., Puranen M., Hakola P., Haltia M. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology 2001, 56:1552-1558.
15. Paloneva J., Kestilä M., Wu J., Salminen A., Bohling T., Ruotsalainen V., Hakola P., Bakker A.B., Phillips J.H., Pekkarinen P., Lanier L.L., Timonen T., Peltonen L. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat. Genet. 2000, 25:357-361.
16. 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.
17. Paloneva J., Mandelin J., Kiialainen A., Bohling T., Prudlo J., Hakola P., Haltia M., Konttinen Y.T., Peltonen L. DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. J.Exp. Med. 2003, 198:669-675.
18. Piguet O. Neurodegenerative disease: frontotemporal dementia-time to target inflammation?. Nat. Rev. Neurol 2013, 9:304-305.
19. Rademakers R., Neumann M., Mackenzie I.R. Advances in understanding the molecular basis of frontotemporal dementia. Nat. Rev. Neurol 2012, 8:423-434.
20. Rayaprolu S., Mullen B., Baker M., Lynch T., Finger E., Seeley W.W., Hatanpaa K.J., Lomen-Hoerth C., Kertesz A., Bigio E.H., Lippa C., Josephs K.A., Knopman D.S., White C.L., Caselli R., Mackenzie I.R., Miller B.L., Boczarska-Jedynak M., Opala G., Krygowska-Wajs A., Barcikowska M., Younkin S.G., Petersen R.C., Ertekin-Taner N., Uitti R.J., Meschia J.F., Boylan K.B., Boeve B.F., Graff-Radford N.R., Wszolek Z.K., Dickson D.W., Rademaker R., Ross O.A. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol. Neurodegener. 2013, 8:19.
21. Rascovsky K., Hodges J.R., Knopman D., Mendez M.F., Kramer J.H., Neuhaus J., van Swieten J.C., Seelaar H., Dopper E.G., Onyike C.U., Hillis A.E., Josephs K.A., Boeve B.F., Kertesz A., Seeley W.W., Rankin K.P., Johnson J.K., Gorno-Tempini M.L., Rosen H., Prioleau-Latham C.E., Lee A., Kipps C.M., Lillo P., Piguet O., Rohrer J.D., Rossor M.N., Warren J.D., Fox N.C., Galasko D., Salmon D.P., Black S.E., Mesulam M., Weintraub S., Dickerson B.C., Diehl-Schmid J., Pasquier F., Deramecourt V., Lebert F., Pijnenburg Y., Chow T.W., Manes F., Grafman J., Cappa S.F., Freedman M., Grossman M., Miller B.L. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011, 134:2456-2477.
22. Rohrer J.D., Warren J.D. Phenotypic signatures of genetic frontotemporal dementia. Curr. Opin. Neurol. 2011, 24:542-549.
23. Seelaar H., Rohrer J.D., Pijnenburg Y.A.L., Fox N.C., Van Swieten J.C. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. JNNP 2011, 82:476-486.
24. Takahashi K., Rochford C.D., Neumann H. Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2. J.Exp. Med. 2005, 201:647-657.