Estimating the age of the most common italian grn mutation: Walking back to Canossa Times

Journal of Alzheimer's Disease

Volumn 33, Issue 1, 2013, Pages 69-76

  Benussi, Luisa ^a   Rademakers, Rosa ^b   Rutherford, Nicola J ^b   Wojtas, Aleksandra ^b   Glionna, Michela ^a   Paterlini, Anna ^a   Albertini, Valentina ^a   Bettecken, Thomas ^c   Binetti, Giuliano ^a   Ghidoni, Roberta ^a  

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

^b MAYO CLINIC   (United States)

^c MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

Author keywords

Clinical phenotype; disease haplotypes; founder; FTLD; GRN; mutation; pedigrees; progranulin

Indexed keywords

PROGRANULIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GROUPS BY AGE; HAPLOTYPE; HETEROZYGOTE; HUMAN; ITALY; MALE; PEDIGREE; POPULATION GROWTH; PRIORITY JOURNAL;

EID: 84872461917     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-121306     Document Type: Article

References (37)

1. The Lund and Manchester Groups (1994) Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 57, 416-418.
2. Ratnavalli E, Brayne C, Dawson K, Hodges JR (2002) The prevalence of frontotemporal dementia. Neurology 58, 1615-1621. (Pubitemid 34602891)
3. Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC (2011) Clinical, genetic and pathological heterogeneity of frontotemporal dementia: A review. J Neurol Neurosurg Psychiatry 82, 476-486.
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, HuttonM(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. Ghidoni R, Paterlini A, Albertini V, Binetti G, Benussi L (2012) Losing protein in the brain. The case of progranulin. Brain Res, doi: 10.1016/j.brainres.2012.01.075.
7. Gijselinck I, Van Broeckhoven C, Cruts M (2008) Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update. Hum Mutat 29, 1373-1386. (Pubitemid 352774891)
8. Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G (2009) Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis 33, 379-385.
9. Schlachetzki JC, Schmidtke K, Beckervordersandforth J, Borozdin W, Wilhelm C, H?ull M, Kohlhase J (2009) Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients. J Neurol 256, 2043-2051.
10. Benussi L, Ghidoni R, BinettiG(2010) Progranulin mutations are a common cause of FTLD in Northern Italy. Alzheimer Dis Assoc Disord 24, 308-309.
11. Yu CE, Bird TD, Bekris LM,Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek A, Galasko DR, Arnold SE, Chen-Plotkin A, Karydas A, Miller BL, Trojanowski JQ, Lee VM, Schellenberg GD, Van Deerlin VM (2010) The spectrum of mutations in progranulin; a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 67, 161-170.
12. Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, Hu W, Greene R,Wood EM, Bing S, Grossman M, SchellenbergGD, Hatanpaa KJ, Weiner MF, White 3rd CL, Brooks WS, Halliday GM, Kril JJ, Gearing M, Beach TG, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Pickering-Brown SM, Snowden J, van Swieten JC, Heutink P, Seelaar H, Murrell JR, Ghetti B, Spina S, Grafman J, Kaye JA, Woltjer RL, Mesulam M, Bigio E, Llad́o A, Miller BL, Alzualde A, Moreno F, Rohrer JD, Mackenzie IR, Feldman HH, Hamilton RL, Cruts M, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bird TD, Cairns NJ, Goate A, Frosch MP, Riederer PF, Bogdanovic N, Lee VM, Trojanowski JQ, Van Deerlin VM (2011) Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 68, 488-497.
13. Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SA, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E (2007) Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation. Neurology 69, 140-147. (Pubitemid 47051718)
14. Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM, Zabetian C, Kwong LK, Lee VM, Schellenberg GD, Bird TD (2007) A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain 130, 360-374.
15. Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, Meitinger T, Ghidoni R (2008) A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 29, 427-435. (Pubitemid 351215590)
16. Gabryelewicz T, Masellis M, Berdynski M, Bilbao JM, Rogaeva E, St George-Hyslop P, Barczak A, Czyzewski K, Barcikowska M, Wszolek Z, Black SE, Zekanowski C (2010) Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN). J Alzheimers Dis 22, 1123-1133.
17. Marcon G, Rossi G, Giaccone G, Giovagnoli AR, Piccoli E, Zanini S, Geatti O, Toso V, Grisoli M, Tagliavini F (2011) Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene. J Alzheimers Dis 26, 583-590.
18. Pietroboni AM, Fumagalli GG, Ghezzi L, Fenoglio C, Cortini F, Serpente M, Cantoni C, Rotondo E, Corti P, Carecchio M, Bassi M, Bresolin N, Galbiati D, Galimberti D, Scarpini E (2011) Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. J Alzheimers Dis 24, 253-259.
19. Rossi G, Piccoli E, Benussi L, Caso F, Redaelli V, Magnani G, Binetti G, Ghidoni R, Perani D, Giaccone G, Tagliavini F (2011) A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression. J Alzheimers Dis 23, 7-12.
20. Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, HsiungGY,Kelley B,Kuntz K, Steinbart E,Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS,Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M (2007) Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C →T (Arg493X) mutation: An international initiative. Lancet Neurol 6, 857-868. (Pubitemid 47404986)
21. van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lubke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP,Van Broeckhoven C, Dermaut B (2006) A Belgian ancestral haplotypes harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain 129, 841-852.
22. Bagnoli S, Piaceri I, Tedde A, Piacentini S, Nannucci S, Bracco L, Sorbi S, Nacmias B (2012) Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy. Cell Mol Neurobiol 32, 13-16.
23. Tremolizzo L, Gelosa G, Galbussera A, Isella V, Arosio C, Bertola F, Casati G, Piperno A, Ferrarese C, Appollonio I (2009) Higher than expected progranulin mutation rate in a case series of Italian FTLD patients. Alzheimer Dis Assoc Disord 23, 301.
24. 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 (2011) Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration. Neurobiol Aging 32, 555.e1-8.
25. Litvan I, Agid Y, Goetz C, Jankovic J,Wenning GK, Brandel JP, Lai EC, Verny M, Ray-Chaudhuri K, McKee A, Jellinger K, Pearce RK, Bartko JJ (1997) Accuracy of the clinical diagnosis of corticobasal degeneration: Aclinicopathologic study. Neurology 48, 119-125. (Pubitemid 27039529)
26. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDAWork Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34, 939-944. (Pubitemid 14076461)
27. 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: A consensus on clinical diagnostic criteria. Neurology 51, 1546-1554.
28. Petersen RC, Smith GE, Waring SC, Ivnik RJ, Tangalos EG, Kokmen E (1999) Mild cognitive impairment: Clinical characterization and outcome. Arch Neurol 56, 303-308. (Pubitemid 29120227)
29. Farrer LA, Myers RH, Connor L, Cupples LA, Growdon JH (1991) Segregation analysis reveals evidence of a major gene for Alzheimer disease. Am J Hum Genet 48, 1026-1033. (Pubitemid 21903064)
30. 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)
31. Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L (2004) Estimating the age of rare disease mutations: The example of Triple-A syndrome. J Med Genet 41, 445-449. (Pubitemid 38788040)
32. Reeve JP, Rannala B (2002) DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 18, 894-895. (Pubitemid 34727655)
33. Borroni B, Archetti S, Alberici A, Agosti C, Gennarelli M, Bigni B, Bonvicini C, Ferrari M, Bellelli G, Galimberti D, Scarpini E, Di Lorenzo D, Caimi L, Caltagirone C, Di Luca M, Padovani A (2008) Progranulin genetic variations in frontotemporal lobar degeneration: Evidence for low mutation frequency in an Italian clinical series. Neurogenetics 9, 197-205.
34. Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G (2008) Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71, 1235-1239.
35. Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, Bisceglio G, Rovelet-Lecrux A, Boeve B, Petersen RC, Dickson DW, Younkin SG, Deramecourt V, Crook J, Graff-Radford NR, Rademakers R (2009) Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 132, 583-591.
36. Sleegers K, Brouwers N, Van Damme P, Engelborghs S, Gijselinck I, van der Zee J, Peeters K, Mattheijssens M, Cruts M,Vandenberghe R, De Deyn PP, RobberechtW,Van Broeckhoven C (2009) Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann Neurol 65, 603-609.
37. Ghidoni R, Stoppani E, Rossi G, Piccoli E, Albertini V, Paterlini A, Glionna M, Pegoiani E, Agnati LF, Fenoglio C, Scarpini E, Galimberti D, Morbin M, Tagliavini F, Binetti G, Benussi L (2012) Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: AMulticenter Italian Study. Neurodegener Dis 9, 121-127.