GRN variability contributes to sporadic frontotemporal lobar degeneration

Journal of Alzheimer's Disease

Volumn 19, Issue 1, 2010, Pages 171-177

  Galimberti, Daniela ^a   Fenoglio, Chiara ^a   Cortini, Francesca ^a   Serpente, Maria ^a   Venturelli, Eliana ^a   Villa, Chiara ^a   Clerici, Francesca ^b   Marcone, Alessandra ^c   Benussi, Luisa ^d   Ghidoni, Roberta ^d   Gallone, Salvatore ^e   Scalabrini, Diego ^a   Restelli, Ilaria ^a   Boneschi, Filippo Martinelli ^c   Cappa, Stefano ^c,f   Binetti, Giuliano ^d   Mariani, Claudio ^b   Rainero, Innocenzo ^e   Giordana, Maria Teresa ^e   Bresolin, Nereo ^a   Scarpini, Elio ^a   more..

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

^f VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

Frontotemporal Lobar Degeneration (FTLD); Polymorphism; Progranulin (GRN); Risk factor; Variability

Indexed keywords

MESSENGER RNA; PROGRANULIN;

AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 75149197665     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2010-1225     Document Type: Article

References (23)

1. 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 (1998) Frontotemporal lobar degeneration. Aconsensus on clinical diagnostic criteria. Neurology 51, 1546-1554.
2. Scarpini E, Galimberti D, Guidi I, Bresolin N, Scheltens P (2006) Progressive, isolated language disturbance: its significance in a 65-year-old-man. A case report with implications for treatment and review of literature. J Neurol Sci 240, 45-51.
3. Hou CE, Carlin D, Miller BL (2004). Non-Alzheimer's disease dementias: anatomic, clinical, and molecular correlates. Can J Psych 49, 164-171.
4. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442, 916-919. (Pubitemid 44285946)
5. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442, 920-924. (Pubitemid 44285947)
6. Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli R, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW(2008) Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP-43-positive frontotemporal dementia. Human Mol Genet 17, 3631-3642.
7. Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn PP, Mann DM, Van Broeckhoven C, Pickering-Brown SM (2009) No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration. Neurobiol Aging, in press.
8. Boeve B, Hutton M (2008) Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 65, 460-464.
9. Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroth S, Gijselinck J, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C (2008) Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology 71, 656-664.
10. Sleegers K, Brouwers N, Maurer-Stroth S, van Es MA, Van Damme P, van Vught PWJ, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology 71, 253-259.
11. Nuytemans K, Pals P, Sleegers K, Engelborghs S, Corsmit E, Peeters K, Pickut B, Mattheijssens M, Cras P, De Deyn PP, Theuns J, Van Broeckhoven C (2008) Progranulin variability has no major role in Parkinson disease genetic etiology. Neurology 71, 1147-1151.
12. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd,Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R (2006) Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15, 2988-3001. (Pubitemid 44530703)
13. Cortini F, Fenoglio C, Guidi I,Venturelli E, Pomati S, Marcone A, Scalabrini D, Villa C, Clerici F, Dalla Valle E, Mariani C, Cappa S, Bresolin N, Scarpini E, Galimberti D (2008) Novel exon 1 progranulin gene variant in Alzheimer's disease. Eur J Neurol 15, 1111-1117.
14. Fenoglio C, Galimberti D, Ban M, Maranian M, Scalabrini D, Venturelli E, Piccio L, De Riz M, Yeo TW, Goris A, Gray J, Bresolin N, Scarpini E, Compston A, Sawcer S, (2006) SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis. Neurosci Lett 394, 92-96.
15. Gordon D, Finch SJ, Nothnagel M, Ott J (2002) Power and sample size calculations for case-control genetic association tests when errors present: application to single nucleotide polymorphisms. Hum Hered 54, 22-33.
16. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296, 2225-2229.
17. Conde L, Vaquerizas JM, Santoyo J, Al-Shahrour F, Ruiz- Llorente S, Robledo M, Dopazo J (2004) PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res 32, W242-W248.
18. Fenoglio C, Galimberti D, Cortini F, Kauwe JSK, Cruchaga C, Venturelli E, Villa C, Serpente M, Scalabrini D, Mayo K, Piccio LM, Clerici F, Albani D, Mariani C, Forloni G, Bresolin N, Goate AM, Scarpini E (2009) rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. J Alzheimers Dis 18, in press.
19. Venturelli E, Villa C, Scarpini E, Fenoglio C, Guidi I, Lovati C, Marcone A, Cortini F, Scalabrini D, Clerici F, Bresolin N, Mariani C, Cappa S, Galimberti D (2008) Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration. Eur J Neurol 15, 77-81.
20. Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Ghidoni R, Cortini F, Scalabrini D, Gallone S, Rainero I, Mandelli A, Restelli I, Binetti G, Cappa S, Mariani C, Giordana MT, Bresolin N, Scarpini E, Galimberti D (2009) The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration. Eur J Neurol 16, 37-42.
21. Galimberti D,Venturelli E,Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Cortini F, Scalabrini D, Perini L, Restelli I, Binetti G, Cappa S, Mariani C, Bresolin N, Scarpini E (2009) MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels. J Alzheimers Dis 17, 125-133.
22. Villa C, Venturelli E, Fenoglio C, Clerici F, Marcone A, Benussi L, Gallone S, Scalabrini D, Cortini F, Serpente M, Martinelli Boneschi F, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini E, Galimberti D (2009) DCUN1D1 is a risk factor for frontotemporal lobar degeneration. Eur J Neurol 16, 870-873.
23. Bian H, Grossman M (2007) Frontotemporal lobar degeneration: recent progress in antemortem diagnosis. Acta Neuropathol 114, 23-29.