Frontotemporal dementia: From mendelian genetics towards genome wide association studies

Journal of Molecular Neuroscience

Volumn 45, Issue 3, 2011, Pages 500-515

  Ferrari, Raffaele ^a,b   Hardy, John ^b   Momeni, Parastoo ^a  

^a TEXAS TECH UNIVERSITY   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Frontotemporal dementia; Genetic variability; Genome wide association studies; MAPT; PGRN

Indexed keywords

DNA BINDING PROTEIN; PROGRANULIN; TAU PROTEIN; VALOSIN CONTAINING PROTEIN;

ALTERNATIVE RNA SPLICING; CHROMOSOME 17; CLINICAL ASSESSMENT; CONFERENCE PAPER; DISEASE COURSE; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; FRONTOTEMPORAL DEMENTIA; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; INTRON; MISSENSE MUTATION; NEUROFIBRILLARY TANGLE; NONSENSE MUTATION;

ADENOSINE TRIPHOSPHATASES; CELL CYCLE PROTEINS; ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; EXONS; FRONTOTEMPORAL DEMENTIA; FRONTOTEMPORAL LOBAR DEGENERATION; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; TAU PROTEINS;

EID: 80855139752     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-011-9635-y     Document Type: Conference Paper

References (130)

1. ST Ahmad ST Sweeney JA Lee NT Sweeney FB Gao 2009 Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia Proc Natl Acad Sci U S A 106 12168 12173 19581577
2. Y Baba Y Tsuboi MC Baker RJ Uitti ML Hutton DW Dickson 2005 The effect of tau genotype on clinical features in FTDP-17 Parkinsonism Relat Disord 11 205 208 15878580
3. M Baker IR Mackenzie SM Pickering-Brown J Gass R Rademakers C Lindholm, et al. 2006 Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 442 916 919 16862116 1:CAS:528: DC%2BD28XosVOgurc%3D
4. WE Balch RI Morimoto A Dillin JW Kelly 2008 Adapting proteostasis for disease intervention Science 319 916 919 18276881 1:CAS:528:DC%2BD1cXhslOmtLw%3D
5. L Benussi G Binetti E Sina L Gigola T Bettecken T Meitinger, et al. 2008 A novel deletion in progranulin gene is associated with FTDP-17 and CBS Neurobiol Aging 29 427 435 17157414 1:CAS:528:DC%2BD1cXitVegsLk%3D
6. L Benussi R Ghidoni E Pegoiani DV Moretti O Zanetti G Binetti 2009 Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide Neurobiol Dis 33 379 385 19101631 1:CAS:528: DC%2BD1MXitVSjsbs%3D
7. B Borroni D Yancopoulou M Tsutsui A Padovani SJ Sawcer JR Hodges 2005 Association between tau H2 haplotype and age at onset in frontotemporal dementia Arch Neurol 62 1419 1422 16157749
8. J Brown A Ashworth S Gydesen A Sorensen M Rossor J Hardy, et al. 1995 Familial non-specific dementia maps to chromosome 3 Hum Mol Genet 4 1625 1628 8541850 1:CAS:528:DyaK2MXnvVensbY%3D
9. L Buee A Delacourte 1999 Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease Brain Pathol 9 681 693 10517507 1:CAS:528:DyaK1MXmvV2ntLo%3D
10. TM Caffrey R Wade-Martins 2007 Functional MAPT haplotypes: bridging the gap between genotype and neuropathology Neurobiol Dis 27 1 10 17555970 1:CAS:528:DC%2BD2sXmvV2itbk%3D
11. A Cannon M Baker B Boeve K Josephs D Knopman R Petersen, et al. 2006 CHMP2B mutations are not a common cause of frontotemporal lobar degeneration Neurosci Lett 398 83 84 16431024 1:CAS:528:DC%2BD28Xjs1aht7Y%3D
12. MM Carrasquillo AM Nicholson N Finch JR Gibbs M Baker NJ Rutherford 2010 Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma Am J Hum Genet 87 890 897 21087763 1:CAS:528:DC%2BC3cXhsFags7fJ
13. G Coppola A Karydas R Rademakers Q Wang M Baker M Hutton, et al. 2008 Gene expression study on peripheral blood identifies progranulin mutations Ann Neurol 64 92 96 18551524 1:CAS:528:DC%2BD1cXhtVKnsrnK
14. Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, Spiegel N et al (2011) Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch Neurol 68:581-586
15. M Cruts C Van Broeckhoven 2008 Loss of progranulin function in frontotemporal lobar degeneration Trends Genet 24 186 194 18328591 1:CAS:528:DC%2BD1cXktVKhtbs%3D
16. M Cruts I Gijselinck J van der Zee S Engelborghs H Wils D Pirici, et al. 2006 Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 442 920 924 16862115 1:CAS:528:DC%2BD28XosVOgu74%3D
17. R Daniel Z He KP Carmichael J Halper A Bateman 2000 Cellular localization of gene expression for progranulin J Histochem Cytochem 48 999 1009 10858277 1:CAS:528:DC%2BD3cXksFyjtLY%3D
18. DW Dickson C Bergeron SS Chin C Duyckaerts D Horoupian K Ikeda, et al. 2002 Office of rare diseases neuropathologic criteria for corticobasal degeneration J Neuropathol Exp Neurol 61 935 946 12430710 1:STN:280: DC%2BD38nntVSkuw%3D%3D
19. DW Dickson R Rademakers ML Hutton 2007 Progressive supranuclear palsy: pathology and genetics Brain Pathol 17 74 82 17493041 1:CAS:528: DC%2BD2sXkvFShsr4%3D
20. D Dormann A Capell AM Carlson SS Shankaran R Rodde M Neumann, et al. 2009 Proteolytic processing of TAR DNA binding protein-43 by caspases produces c-terminal fragments with disease defining properties independent of progranulin J Neurochem 110 1082 1094 19522733 1:CAS:528:DC%2BD1MXptlensb8%3D
21. Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P (2010) Novel missense mutation in charged multivesicular body 1021 protein 2B in a patient with frontotemporal dementia. Alzheimer Dis Assoc Disord 24:397-401
22. I Ferrer G Santpere FW van Leeuwen 2008 Argyrophilic grain disease Brain 131 1416 1432 18234698
23. N Finch M Baker R Crook K Swanson K Kuntz R Surtees 2009 Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members Brain 132 583 591 19158106
24. N Finch MM Carrasquillo M Baker NJ Rutherford G Coppola M Dejesus-Hernandez, et al. 2011 TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers Neurology 76 467 474 21178100 1:CAS:528:DC%2BC3MXhtlWis7o%3D
25. MS Forman IR Mackenzie NJ Cairns E Swanson PJ Boyer DA Drachman, et al. 2006 Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations J Neuropathol Exp Neurol 65 571 581 16783167 1:CAS:528:DC%2BD28XntFels7Y%3D
26. Genomes Project Consortium 2010 A map of human genome variation from population-scale sequencing Nature 467 1061 1073
27. M Ghanim L Guillot-Noel F Pasquier L Jornea V Deramecourt B Dubois, et al. 2010 CHMP2B mutations are rare in French families with frontotemporal lobar degeneration J Neurol 257 2032 2036 20625756
28. Ghidoni R, Signorini S, Barbiero L, Sina E, Cominelli P, Villa A et al (2006) The H2 MAPT haplotype is associated with familial frontotemporal dementia. Neurobiol Dis 22:357-362
29. R Ghidoni L Benussi M Glionna M Franzoni G Binetti 2008 Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration Neurology 71 1235 1239 18768919 1:CAS:528:DC%2BD1cXht1SntLfF
30. I Gijselinck C Van Broeckhoven M Cruts 2008 Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update Hum Mutat 29 1373 1386 18543312 1:CAS:528:DC%2BD1MXhtVGgsLs%3D
31. MA Gitcho J Strider D Carter L Taylor-Reinwald MS Forman AM Goate, et al. 2009 VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death J Biol Chem 284 12384 12398 19237541 1:CAS:528:DC%2BD1MXltVClsrk%3D
32. M Goedert 2004 Tau protein and neurodegeneration Semin Cell Dev Biol 15 45 49 15036206 1:CAS:528:DC%2BD2cXptVantg%3D%3D
33. M Goedert 2005 Tau gene mutations and their effects Mov Disord 20 Suppl 12 S45 S52 16092090
34. M Goedert R Jakes 2005 Mutations causing neurodegenerative tauopathies Biochim Biophys Acta 1739 240 250 15615642 1:CAS:528:DC%2BD2cXhtFahsrjK
35. M Goedert MG Spillantini R Jakes D Rutherford RA Crowther 1989 Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease Neuron 3 519 526 2484340 1:CAS:528:DyaK38XjvFSmsQ%3D%3D
36. M Goedert R Jakes MG Spillantini M Hasegawa MJ Smith RA Crowther 1996 Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans Nature 383 550 553 8849730 1:CAS:528:DyaK28Xmt1GqsL8%3D
37. M Goedert A Klug RA Crowther 2006 Tau protein, the paired helical filament and Alzheimer's disease J Alz Dis 9 195 207 1:CAS:528: DC%2BD28XotFKktb8%3D
38. B Grisart L Willatt A Destrée JP Fryns K Rack T de Ravel, et al. 2009 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction J Med Genet 46 524 530 19502243 1:STN:280:DC%2BD1Mris1KisQ%3D%3D
39. Guo A, Tapia L, Bamji SX, Cynader MS, Jia W (2010) Progranulin deficiency leads to enhanced cell vulnerability and TDP-43 translocation in primary neuronal cultures. Brain Res 1366:1-8
40. S Gydesen JM Brown A Brun L Chakrabarti A Gade P Johannsen, et al. 2002 Chromosome 3 linked frontotemporal dementia (FTD-3) Neurology 59 1585 1594 12451202 1:STN:280:DC%2BD38nptVejsQ%3D%3D
41. D Halawani AC LeBlanc I Rouiller SW Michnick MJ Servant M Latterich 2009 Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation Mol Cell Biol 29 4484 4494 19506019 1:CAS:528:DC%2BD1MXhtVSju7nP
42. J Hardy A Singleton 2009 Genomewide association studies and human disease N Engl J Med 360 1759 1768 19369657 1:CAS:528:DC%2BD1MXkvVOqsrY%3D
43. D Harold R Abraham P Hollingworth R Sims A Gerrish ML Hamshere 2009 Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nat Genet 41 1088 1093 19734902 1:CAS:528: DC%2BD1MXhtV2gsbrM
44. Z He A Bateman 2003 Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis J Mol Med 81 600 612 12928786 1:CAS:528:DC%2BD3sXotVars7o%3D
45. P Hollingworth D Harold R Sims A Gerrish JC Lambert MM Carrasquillo 2011 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease Nat Genet 43 429 435 21460840 1:CAS:528: DC%2BC3MXktFahtr8%3D
46. F Hu T Padukkavidana CB Vægter OA Brady Y Zheng IR Mackenzie 2010 Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin Neuron 68 654 667 21092856 1:CAS:528:DC%2BC3cXhsVGntb3E
47. M Hutton CL Lendon P Rizzu M Baker S Froelich H Houlden, et al. 1998 Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393 702 705 9641683 1:CAS:528: DyaK1cXktVyqsr0%3D
48. International HapMap Consortium 2003 The international HapMap project Nature 426 789 796
49. International HapMap Consortium 2005 A haplotype map of the human genome Nature 437 1299 1320
50. International HapMap Consortium 2007 A second generation human haplotype map of over 3.1 million SNPs Nature 449 851 861
51. YS Jho EB Zhulina MW Kim PA Pincus 2010 Monte Carlo simulations of tau proteins: effect of phosphorylation Biophys J 99 2387 2397 20959078 1:CAS:528:DC%2BC3cXhtlShsbjJ
52. KA Josephs Z Ahmed O Katsuse JF Parisi BF Boeve DS Knopman, et al. 2007 Neuropathologic features of frontotemporal lobar degeneration with ubiquitinpositive inclusions with progranulin gene (PGRN) mutations J Neuropathol Exp Neurol 66 142 151 17278999 1:CAS:528:DC%2BD2sXislWnsb8%3D
53. JS Ju CC Weihl 2010 Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy Hum Mol Genet 19 R1 R38 R45 20410287 1:CAS:528:DC%2BC3cXmsVSrtLY%3D
54. M Kirchhoff AM Bisgaard M Duno FJ Hansen M Schwartz 2007 A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features Eur J Med Genet 50 256 263 17576104
55. G Kleinberger H Wils P Ponsaerts G Joris JP Timmermans C Van Broeckhoven 2010 Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures J Neurochem 115 735 747 20731760 1:CAS:528:DC%2BC3cXhtlGlsb3M
56. DS Knopman RC Petersen SD Edland RH Cha WA Rocca 2004 The incidence of frontotemporal lobar degeneration in Rochester, Minnesota, 1990 through 1994 Neurology 62 506 508 14872045 1:STN:280:DC%2BD2c%2FntVCrsg%3D%3D
57. H Kondo C Rabouille R Newman TP Levine D Pappin P Freemont, et al. 1997 p47 is a cofactor for p97-mediated membrane fusion Nature 388 75 78 9214505 1:CAS:528:DyaK2sXksVSrsLw%3D
58. DA Koolen LE Vissers R Pfundt N de Leeuw SJ Knight R Regan, et al. 2006 A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nat Genet 38 999 1001 16906164 1:CAS:528: DC%2BD28XovVWjsbg%3D
59. A Kurz R Perneczky 2009 Neurobiology of cognitive disorders Curr Opin Psychiatry 22 546 551 19644374
60. JC Lambert S Heath G Even D Campion K Sleegers M Hiltunen 2009 Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease Nat Genet 41 1094 1099 19734903 1:CAS:528: DC%2BD1MXhtV2gsb%2FK
61. SM Laws R Perneczky A Drzezga J Diehl-Schmid B Ibach J Bäuml 2007 Association of the tau haplotype H2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia Am J Psychiatry 164 1577 1584 17898350
62. I Le Ber J van der Zee D Hannequin I Gijselinck D Campion M Puel, et al. 2007 Progranulin null mutations in both sporadic and familial frontotemporal dementia Hum Mutat 28 846 855 17436289
63. VM Lee M Goedert JQ Trojanowski 2001 Neurodegenerative tauopathies Annu Rev Neurosci 24 1121 1159 11520930 1:CAS:528:DC%2BD3MXls1Shsbo%3D
64. JA Lee A Beigneux ST Ahmad SG Young FB Gao 2007 ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration Curr Biol 17 1561 1567 17683935 1:CAS:528:DC%2BD2sXhtVGjt7vL
65. A Lladó B Rodríguez-Santiago A Antonell R Sánchez-Valle JL Molinuevo R Reñé, et al. 2007 MAPT gene duplications are not a cause of frontotemporal lobar degeneration Neurosci Lett 424 61 65 17707586
66. IR Mackenzie R Rademakers 2007 The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments Neurogenetics 8 237 248 17805587 1:CAS:528:DC%2BD2sXks1Khsr0%3D
67. IR Mackenzie M Neumann EH Bigio NJ Cairns I Alafuzoff J Kril, et al. 2009 Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations Acta Neuropathol 117 15 18 19015862
68. IR Mackenzie M Neumann EH Bigio NJ Cairns I Alafuzoff J Kril, et al. 2010 Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update Acta Neuropathol 119 1 4 19924424
69. A Malaspina N Kaushik J de Belleroche 2001 Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays J Neurochem 77 132 145 11279269 1:CAS:528:DC%2BD3MXis1Klt7c%3D
70. R Malkani I D'Souza K Gwinn-Hardy GD Schellenberg J Hardy P Momeni 2006 A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia Neurobiol Dis 22 401 403 16503405 1:CAS:528:DC%2BD28XktVyjs7s%3D
71. M Mesulam N Johnson TA Krefft JM Gass AD Cannon JL Adamson, et al. 2007 Progranulin mutations in primary progressive aphasia. The PPA1 and PPA3 families Arch Neurol 64 43 47 17210807
72. P Momeni E Rogaeva V Van Deerlin W Yuan J Grafman M Tierney, et al. 2006 Genetic variability in CHMP2B and frontotemporal dementia Neurodegener Dis 3 129 133 16954699 1:CAS:528:DC%2BD28XptFWit7k%3D
73. P Momeni J Bell J Duckworth M Hutton D Mann SP Brown, et al. 2006 Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B Neurosci Lett 410 77 79 17095158 1:CAS:528:DC%2BD28Xht1Sgs7rF
74. P Momeni J Schymick S Jain MR Cookson NJ Cairns E Greggio, et al. 2006 Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD BMC Neurol 6 44 17166276
75. M Morris S Maeda K Vossel L Mucke 2011 The many faces of tau Neuron 70 410 426 21555069 1:CAS:528:DC%2BC3MXlvVeku7g%3D
76. O Mukherjee P Pastor NJ Cairns S Chakraverty JS Kauwe S Shears, et al. 2006 HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin Ann Neurol 60 314 322 16983685 1:CAS:528:DC%2BD28XhtFyksLbE
77. O Mukherjee JS Kauwe K Mayo JC Morris AM Goate 2007 Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease BMC Genet 8 3 17266761
78. O Mukherjee J Wang M Gitcho S Chakraverty L Taylor-Reinwald S Shears 2008 Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia Hum Mutat 29 512 521 18183624 1:CAS:528: DC%2BD1cXlslWlsL4%3D
79. AJ Myers JR Gibbs JA Webster K Rohrer A Zhao L Marlowe, et al. 2007 A survey of genetic human cortical gene expression Nat Genet 39 1494 1499 17982457 1:CAS:528:DC%2BD2sXhtlKmtLrO
80. AJ Myers AM Pittman AS Zhao K Rohrer M Kaleem L Marlowe 2007 The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts Neurobiol Dis 25 561 570 17174556 1:CAS:528:DC%2BD2sXisVWiuro%3D
81. AC Naj G Jun GW Beecham LS Wang BN Vardarajan J Buros 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease Nat Genet 43 436 441 21460841 1:CAS:528:DC%2BC3MXktFahtrk%3D
82. MA Nalls V Plagnol DG Hernandez M Sharma UM Sheerin M Saad 2011 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies Lancet 377 641 649 21292315
83. D Neary JS Snowden L Gustafson U Passant D Stuss S Black, et al. 1998 Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria Neurology 51 1546 1554 9855500 1:STN:280:DyaK1M%2FntFWnsA%3D%3D
84. M Neumann LK Kwong AC Truax B Vanmassenhove HA Kretzschmar VM Van Deerlin, et al. 2007 TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions J Neuropathol Exp Neurol 66 177 183 17356379 1:CAS:528:DC%2BD2sXjvFWmsr8%3D
85. N Parkinson PG Ince MO Smith R Highley G Skibinski PM Andersen, et al. 2006 ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) Neurology 67 1074 1077 16807408 1:CAS:528:DC%2BD28XpsVantr8%3D
86. SM Pickering-Brown S Rollinson D Du Plessis KE Morrison A Varma AM Richardson, et al. 2008 Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations Brain 131 721 1731 18192287
87. AM Pittman AJ Myers J Duckworth L Bryden M Hanson P Abou-Sleiman, et al. 2004 The structure of the tau haplotype in controls and in progressive supranuclear palsy Hum Mol Genet 13 1267 1274 15115761 1:CAS:528: DC%2BD2cXktF2qtLo%3D
88. AM Pittman AJ Myers P Abou-Sleiman HC Fung M Kaleem L Marlowe 2005 Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration J Med Genet 42 837 846 15792962 1:CAS:528:DC%2BD2MXht1KrtbbK
89. KS Poksay DT Madden AK Peter K Niazi S Banwait D Crippen, et al. 2011 Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration J Mol Neurosci 44 91 102 21249466 1:CAS:528: DC%2BC3MXlsVWit7o%3D
90. P Poorkaj TD Bird E Wijsman E Nemens RM Garruto L Anderson, et al. 1998 Tau is a candidate gene for chromosome 17 frontotemporal dementia Ann Neurol 43 815 825 9629852 1:CAS:528:DyaK1cXktVSjsL8%3D
91. E Rabinovich A Kerem KU Fröhlich N Diamant S Bar-Nun 2002 AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation Mol Cell Biol 22 626 634 11756557 1:CAS:528: DC%2BD38XhvVeqtA%3D%3D
92. C Rabouille H Kondo R Newman N Hui P Freemont G Warren 1998 Syntaxin 5 is a common component of the NSF- and p97-mediated reassembly pathways of Golgi cisternae from mitotic Golgi fragments in vitro Cell 92 603 610 9506515 1:CAS:528:DyaK1cXhvVWqsb0%3D
93. E Ratnavalli C Brayne K Dawson JR Hodges 2002 The prevalence of frontotemporal dementia Neurology 58 1615 1621 12058088 1:STN:280: DC%2BD38zhsFWguw%3D%3D
94. P Rizzu SE van Mil B Anar SM Rosso L Donker Kaat P Heutink, et al. 2006 CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia Am J Med Genet B Neuropsychiatr Genet 141B 944 946 16941655 1:CAS:528:DC%2BD2sXmsFaltLw%3D
95. JD Rohrer R Guerreiro J Vandrovcova J Uphill D Reiman J Beck, et al. 2009 The heritability and genetics of frontotemporal lobar degeneration Neurology 73 1451 1456 19884572 1:CAS:528:DC%2BD1MXhtlCmsrjP
96. JD Rohrer GR Ridgway M Modat S Ourselin S Mead NC Fox, et al. 2010 Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations NeuroImage 53 1070 1076 20045477 1:CAS:528:DC%2BC3cXhtFWqtrrN
97. Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N et al (2011) Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol Aging 32:758.e1-7
98. A Rovelet-Lecrux V Deramecourt S Legallic CA Maurage I Le Ber A Brice, et al. 2008 Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease Neurobiol Dis 31 41 45 18479928 1:CAS:528:DC%2BD1cXnsF2lt7o%3D
99. A Rovelet-Lecrux M Lecourtois C Thomas-Anterion I Le Ber A Brice T Frebourg 2009 Partial deletion of the MAPT gene: a novel mechanism of FTDP-17 Hum Mutat 30 E591 E602 19263483
100. A Rovelet-Lecrux D Hannequin O Guillin S Legallic S Jurici D Wallon, et al. 2010 Frontotemporal dementia phenotype associated with MAPT gene duplication J Alzheimers Dis 21 897 902 20634582 1:CAS:528:DC%2BC3cXhtFKmurnI
101. EC Schofield GM Halliday J Kwok C Loy KL Double JR Hodges 2010 Low serum progranulin predicts the presence of mutations: a prospective study J Alzheimers Dis 22 981 984 20858962 1:CAS:528:DC%2BC3cXhsFSqt7zF
102. H Seelaar JD Rohrer YA Pijnenburg NC Fox JC van Swieten 2011 Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review J Neurol Neurosurg Psychiatry 82 476 486 20971753
103. SS Shankaran A Capell AT Hruscha K Fellerer M Neumann B Schmid, et al. 2008 Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion J Biol Chem 283 1744 1753 17984093 1:CAS:528: DC%2BD1cXks1CitQ%3D%3D
104. C Shaw-Smith AM Pittman L Willatt H Martin L Rickman S Gribble, et al. 2006 Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability Nat Genet 38 1032 1037 16906163 1:CAS:528:DC%2BD28XovVWjtr4%3D
105. Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D et al (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41:1308-1312
106. AB Singleton J Hardy BJ Traynor H Houlden 2010 Towards a complete resolution of the genetic architecture of disease Trends Genet 26 438 442 20813421 1:CAS:528:DC%2BC3cXhtFyju7zJ
107. G Skibinski NJ Parkinson JM Brown L Chakrabarti SL Lloyd H Hummerich, et al. 2005 Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia Nat Genet 37 806 808 16041373 1:CAS:528: DC%2BD2MXmsFKlsLw%3D
108. L Skoglund S Ingvast T Matsui SH Freeman MP Frosch R Brundin, et al. 2009 No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration Dement Geriatr Cogn Disord 28 471 475 19940479 1:CAS:528:DC%2BD1MXhsFygu7zI
109. K Sleegers N Brouwers P Van Damme S Engelborghs I Gijselinck J van der Zee, et al. 2009 Serum biomarker for progranulin-associated frontotemporal lobar degeneration Ann Neurol 65 603 609 19288468 1:CAS:528:DC%2BD1MXnvFahsb4%3D
110. MG Spillantini M Goedert RA Crowther JR Murrell MR Farlow B Ghetti 1997 Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments Proc Natl Acad Sci U S A 94 4113 4118 9108114 1:CAS:528:DyaK2sXis1ejurw%3D
111. MG Spillantini JR Murrell M Goedert MR Farlow A Klug B Ghetti 1998 Mutation in the tau gene in familial multiple system tauopathy with presenile dementia Proc Natl Acad Sci U S A 95 7737 7741 9636220 1:CAS:528: DyaK1cXktFCgs7c%3D
112. 2+ dependent protein interactions mediated by the C2A domains of synaptotagmins Biochemistry 39 2940 2949 10715114 1:CAS:528:DC%2BD3cXhtlGqtrg%3D
113. W Tang Y Lu QY Tian Y Zhang FJ Guo GY Liu, et al. 2011 The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice Science 332 478 484 21393509 1:CAS:528:DC%2BC3MXkvValsrY%3D
114. H Urwin S Ghazi-Noori J Collinge A Isaacs 2009 The role of CHMP2B in frontotemporal dementia Biochem Soc Trans 37 208 212 19143633 1:CAS:528:DC%2BD1MXotVWmug%3D%3D
115. H Urwin A Authier JE Nielsen D Metcalf C Powell K Froud, et al. 2010 Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations Hum Mol Genet 19 2228 2238 20223751 1:CAS:528:DC%2BC3cXlvVWkurg%3D
116. VM Van Deerlin PM Sleiman M Martinez-Lage A Chen-Plotkin LS Wang NR Graff-Radford, et al. 2010 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions Nat Genet 42 234 239 20154673
117. J van der Zee I Le Ber S Maurer-Stroh S Engelborghs I Gijselinck A Camuzat, et al. 2007 Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia Hum Mutat 28 416 17345602
118. J van der Zee H Urwin S Engelborghs M Bruyland R Vandenberghe B Dermaut, et al. 2008 CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro Hum Mol Genet 17 313 322 17956895
119. van der Zee J, Van Langenhove T, Kleinberger G, Sleegers K, Engelborghs S, Vandenberghe R et al (2011) TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. Brain 134:808-815
120. JC van Swieten P Heutink 2008 Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia Lancet Neurol 7 965 974 18771956
121. J van Swieten MG Spillantini 2007 Hereditary frontotemporal dementia caused by TAU gene mutations Brain Pathol 17 63 73 17493040
122. J Vandrovcova F Anaya V Kay A Lees J Hardy R de Silva 2010 Disentangling the role of the tau gene locus in sporadic tauopathies Curr Alzheimer Res 7 726 734 20704554 1:CAS:528:DC%2BC3MXis1Ontg%3D%3D
123. R Vass E Ashbridge F Geser WT Hu M Grossman D Clay-Falcone, et al. 2011 Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis Acta Neuropathol 121 373 380 21104415
124. Q Wang C Song CC Li 2004 Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions J Struct Biol 146 44 57 15037236 1:CAS:528:DC%2BD2cXisVSmtrg%3D
125. GD Watts J Wymer MJ Kovach SG Mehta S Mumm D Darvish, et al. 2004 Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein Nat Genet 36 377 381 15034582 1:CAS:528:DC%2BD2cXis1aht70%3D
126. CC Weihl S Dalal A Pestronk PI Hanson 2006 Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation Hum Mol Genet 15 189 199 16321991 1:CAS:528:DC%2BD28XktF2huw%3D%3D
127. CC Weihl A Pestronk VE Kimonis 2009 Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia Neuromuscul Disord 19 308 315 19380227
128. RL Williams S Urbé 2007 The emerging shape of the ESCRT machinery Nat Rev Mol Cell Biol 8 355 368 17450176 1:CAS:528:DC%2BD2sXksFSjsrw%3D
129. YJ Zhang Y Xu CD Dickey E Buratti F Baralle R Bailey, et al. 2007 Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43 J Neurosci 27 10530 10534 17898224 1:CAS:528:DC%2BD2sXhtFGmt7fO
130. MC Zody Z Jiang HC Fung F Antonacci LW Hillier MF Cardone, et al. 2008 Evolutionary toggling of the MAPT 17q21.31 inversion region Nat Genet 40 1076 1083 19165922 1:CAS:528:DC%2BD1cXhtVGgtrfI