The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

Brain

Volumn 129, Issue 11, 2006, Pages 3081-3090

  Mackenzie, Ian R A ^a,d   Baker, Matt ^b   Pickering Brown, Stuart ^c   Hsiung, Ging Yuek R ^a   Lindholm, Caroline ^a   Dwosh, Emily ^a   Gass, Jennifer ^b   Cannon, Ashley ^b   Rademakers, Rosa ^b   Hutton, Mike ^b   Feldman, Howard H ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d VANCOUVER GENERAL HOSPITAL   (Canada)

Author keywords

Frontotemporal dementia; Frontotemporal lobar degeneration; Neuronal intranuclear inclusions; Progranulin; Ubiquitin

Indexed keywords

PROGRANULIN;

ADULT; AGED; ARTICLE; CELL INCLUSION; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS STRIATUM; DISEASE SEVERITY; FAMILY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ANALYSIS; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; MALE; NEOCORTEX; NEURITE; NEUROPATHOLOGY; PRIORITY JOURNAL;

AGED; CORPUS STRIATUM; DEMENTIA; FEMALE; HIPPOCAMPUS; HUMANS; IMMUNOENZYME TECHNIQUES; INCLUSION BODIES; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRANUCLEAR INCLUSION BODIES; MALE; MIDDLE AGED; MUTATION; NEOCORTEX; RETROSPECTIVE STUDIES; UBIQUITIN;

EID: 33750590113     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl271     Document Type: Article

References (57)

1. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442: 916-9.
2. Benussi L, Signorini S, Ghidoni R, Alberici A, Barbiero L, Feudatari E, et al. Identification of genetic loci associated with familial frontotemporal dementia. Neurobiol Aging 2004; 25 (Suppl 2): 517.
3. Bigio EH, Johnson NA, Rademaker AW, Fung BB, Mesulam MM, Siddique N, et al. Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 2004; 63: 801-11.
4. Bird T, Knopman D, VanSweiten J, Rosso S, Feldman H, Tanabe H. Epidemiology and genetics of frontotemporal dementia/Pick's disease. Ann Neurol 2003; 54 (Suppl 5): S29-31.
5. Bird TD, Wijsman EM, Nochlin D, Leehey M, Sumi SM, Payami H, et al. Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD. Neurology 1997; 48: 949-54.
6. Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropthol 1991; 82: 239-59.
7. Braak H, Braak E. Frequency of stages of Alzheimer-related lesions in different age categories. Neurobiol Aging 1997; 18: 351-7.
8. Chow TW, Miller BL, Hayashi VN, Geschwind DH. Inheritance of frontotemporal dementia. Arch Neurol 1999; 56: 817-22.
9. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wills H, Pirici D, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006; 442: 920-4.
10. Daniel R, He Z, Carmichael P, Halper J, Bateman A. Cellular localization of gene expression for progranulin. J Histochem Cytochem 2000; 48: 999-1009.
11. Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, et al. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol 2006; 65: 571-81.
12. Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 1997; 41: 706-15.
13. Froelich S, Basun H, Forsell C, Lilius L, Axelman K, Andreadis A, et al. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am J Med Genet 1997; 74: 380-5.
14. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Andreadis A, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 2006; 15: 2988-3001.
15. Ghetti B, Hutton ML, Wszolek ZK. Frontotemporal dementia and parkinsonism linked to chromosome 17 associated with Tau gene mutations (FTDP-17T). In: Dickson D, editor. Neurodegeneration: the molecular pathology of dementia and movement disorders. Basel, Switzerland: ISN Neuropath Press; 2003. p. 86-102.
16. Hatanpaa KJ, Blass DM, Pletnikova O, Crain BJ, Bigio EH, Hedreen JC, et al. Most cases of dementia with hippocampal sclerosis may represent frontotemporal dementia. Neurology 2004; 63: 538-42.
17. He Z, Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med 2003; 81: 600-12.
18. Hosler BA, Siddique T, Sapp PC, Sailor WBA, Huang MC, Hossain AMS, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-22. J Am Med Assoc 2000; 284: 1664-9.
19. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-5.
20. Jackson M, Lennox G, Lowe J. Motor neurone disease-inclusion dementia. Neurodegeneration 1996; 5: 339-50.
21. Johnson JK, Diehl J, Mendez MF, Neuhaus J, Shapira JS, Forman M, et al. Frontotemporal lobar degeneration. Demographic characteristics of 353 patients. Arch Neurol 2005; 62: 925-30.
22. Josephs KA, Holton JL, Rossor MN, Godbolt AK, Ozawa T, Strand K, et al. Frontotemporal lobar degeneration and ubiquitin immunohistochemistry. Neuropathol Appl Neurobiol 2004a; 30: 369-73.
23. Josephs KA, Jones AG, Dickson DW. Hippocampal sclerosis and ubiquitin-positive inclusions in dementia lacking distinctive histopathology. Dement Geriatr Cogn Disord 2004b; 17: 342-5.
24. Katsuse O, Dickson DW. Ubiquitin immunohistochemistry of frontotemporal lobar degeneration differentiates cases with and without motor neuron disease. Alzheimer Dis Assoc Disord 2005; 19 (Suppl 1): S37-43.
25. Kertesz A, Kawarai T, Rogaeva E, St. George-Hyslop P, Poorkaj P, Bird TD, et al. Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions. Neurology 2000; 54: 818-27.
26. Knopman DS, Mastri AR, Frey WH, Sung JH, Rustan T. Dementia lacking distinctive histopathologic features: a common non-Alzheimer degenerative dementia. Neurology 1990; 40: 251-6.
27. Lendon CL, Lynch T, Norton J, McKeel DW, Busfield F, Craddock N, et al. Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology 1998; 50: 1546-55.
28. Lipton AM, White CL, Bigio EH. Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. Acta Neuropathol 2004; 108: 379-85.
29. Lowe J. New pathological findings in amyotrophic lateral sclerosis. J Neurol Sci 1994; 124: 38-51.
30. Mackenzie IRA. Senile plaques do not progressively accumulate with normal aging. Acta Neuropathol 1994; 87: 520-5.
31. Mackenzie IRA, Feldman H. Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases. Acta Neuropathol 2003; 105: 543-8.
32. Mackenzie IR, Feldman H. Extrapyramidal features in patients with motor neuron disease and dementia; a clinicopathological study. Acta Neuropathol 2004; 107: 336-40.
33. Mackenzie IR, Feldman HH. Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum. J Neuropathol Exp Neurol 2005; 64: 730-9.
34. Mackenzie IR, Baker M, West G, Woulfe J, Qadi N, Gass J, et al. A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain 2006a; 129: 853-67.
35. Mackenzie IRA, Shi J, Shaw CL, DuPlessis D, Neary D, Snowden JS, et al. Dementia lacking distinctive histology (DLDH) revisited. Acta Neuropathol 2006b; August 10, 2006 [Epub ahead of print].
36. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNA dynamics. Nat Rev Mol Cell Biol 2004; 5: 89-99.
37. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski J. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on frontotemporal dementia and Pick's disease. Arch Neurol 2001; 58: 1803-9.
38. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, et al. The consortium to establish a registry for Alzheimer's disease (CERAD). Part II. Standardization of the neuropathological assessment of Alzheimer's disease. Neurology 1991; 41: 479-86.
39. Morita M, Al Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006; 66: 839-44.
40. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998; 51: 1546-54.
41. Okamoto K, Murakami N, Kosaka H, Yoshida M, Hashizume Y, Nakazato Y, et al. Ubiquitin-positive intraneuronal inclusions in the extramotor cortices of presenile dementia patients with motor neuron disease. J Neurol 1992; 239: 426-30.
42. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998; 43: 815-25.
43. Poorkaj P, Grossman M, Steinbart E, Payani H, Sadovnick A, Nochlin D, et al. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer's dementia. Arch Neurol 2001; 58: 383-7.
44. Rademakers R, Cruts M, Dermaut B, Sleegers K, Rosso SM, van den Broeck M, et al. Tau negative frontal lobe dementia at 17q21: significant fine-mapping of the candidate region to a 4.8 cM interval. Mol Psych 2002; 7: 1064-74.
45. Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat 2004; 24: 277-95.
46. Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology 2002; 58: 1615-21.
47. Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, et al. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 2001; 124: 1948-57.
48. Rosso SM, Kaat LD, Baks T, Joosse M, de Koning I, Pijnenburg Y, et al. Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 2003; 126: 2016-22.
49. Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Gen 2005; 37: 806-8.
50. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998; 95: 7737-41.
51. Stevens M, van Juijn CM, Kamphorts W, de Knijff P, Heutink P, van Gool WA, et al. Familial aggregation in frontotemporal dementia. Neurology 1998; 50: 1541-5.
52. The Lund and Manchester Groups. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 1994; 57: 416-8.
53. Trojanowski JQ, Dickson D. Update on the neuropathological diagnosis of frontotemporal dementia. J Neuropathol Exp Neurol 2001; 60: 1123-6.
54. Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006; 129: 868-76.
55. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Gen 2004; 36: 377-81.
56. Wightman G, Anderson VE, Martin J, Swash M, Anderton BH, Neary D, et al. Hippocampal and neocortical ubiquitin immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett 1992; 139: 269-74.
57. Woulfe J, Kertesz A, Munoz DG. Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol 2001; 102: 94-102.