Clinicopathologic correlation in PGRN mutations

Neurology

Volumn 69, Issue 11, 2007, Pages 1113-1121

  Davion, S ^a   Johnson, N ^a   Weintraub, S ^a   Mesulam, M M ^a   Engberg, A ^a   Mishra, M ^a   Baker, M ^b   Adamson, J ^b   Hutton, M ^b   Rademakers, R ^b   Bigio, E H ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; PROGRANULIN; TAU PROTEIN; UBIQUITIN;

ADULT; AGED; ARTICLE; CELL INCLUSION; CHROMOSOME 17; CHROMOSOME 17Q; CLINICAL ARTICLE; DENTATE GYRUS; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HUMAN; MALE; PGRN GENE; PHENOTYPE; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL;

EID: 34447098752     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000267701.58488.69     Document Type: Article

References (40)

1. Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology 2002;58:1615-1621.
2. Harvey RJ, Skelton-Robinson M, Rossor MN. The prevalence and causes of dementia in people under the age of 65 years. J Neurol Neurosurg Psychiatry 2003;74:1206-1209.
3. Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
4. Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002;59:1077-1079.
5. Kertesz A, Munoz D. Relationship between frontotemporal dementia and corticobasal degeneration/progressive supranuclear palsy. Dement Geriatr Cogn Disord 2004;17:282-286.
6. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 2001;58:1803-1809.
7. Cairns NJ, Perry RH, Jaros E, et al. Patients with a novel filamentopathy: dementia with neurofilament inclusions. Neurosci Lett 2003;341:177-180.
8. Bigio EH, Lipton AM, White CL III, Dickson DW, Hirano A. Frontotemporal and motor neurone degeneration with neurofilament inclusion bodies: additional evidence for overlap between FTD and ALS. Neuropathol Appl Neurobiol 2003;29:239-253.
9. Josephs KA, Holton JL, Rossor MN, et al. Neurofilament inclusion body disease: a new proteinopathy? Brain 2004;126:2291-2303.
10. Watts GDJ, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genetics 2004;36:377-381.
11. Schröder R, Watts GDJ, Mehta SG, et al. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol 2005;57:457-461.
12. Josephs KA, Holton JL, Rossor MN, et al. Frontotemporal lobar degeneration and ubiquitin immunohistochemistry. Neuropathol Appl Neurobiol 2004;30:369-373.
13. Lipton AM, White CLIII, Bigio EH. FTD-MND Predominates in 76 cases of frontotemporal degeneration. Acta Neuropathol 2004;108:379-385.
14. Johnson JK, Diehl J, Mendez MF, et al. Frontotemporal lobar degeneration: demographic characteristics of 353 patients. Arch Neurol 2005;62:925-930.
15. Shi J, Shaw CL, Du Plessis D, et al. Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. Acta Neuropathol 2005;110:501-512.
16. Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916-919.
17. Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin positive frontotemporal dementia linked to chromosome 17q21. Nature 2006;441:920-924.
18. Mukherjee O, Pastor P, Cairns N, et al. HDDD2 is a familial FTLD-U caused by a missense mutation in progranulin. Ann Neurol 2006;60:314-322.
19. Mesulam M, Johnson N, Krefft TA, et al. Progranulin mutations in primary progressive aphasia - the PPA1 and PPA3 families. Arch Neurol 2007;64:43-47.
20. Behrens MI, Mukherjee O, Tu P, et al. Neuropathologic heterogeneity in HDDD1: A familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. Alzheimer Dis Assoc Disord 2007;21:1-7.
21. Masellis M, Momeni P, Meschino W, et al. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 2006;129:3115-3123.
22. Benussi L, Binetti G, Sina E, et al. Dementia novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 2006; doi: 10.1016/j.neurobiolaging.2006.10.028.
23. Gass J, Cannon A, Mackenzie IR, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Gen 2006;15:2988-3001.
24. Huey ED, Grafman J, Wassermann EM, et al. Characteristics of frontotemporal dementia patients with a progranulin mutation. Ann Neurol 2006;60:374-380.
25. Spina S, Murrell JR, Huey ED, et al. Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation. Neurology 2007;68:820-827.
26. Mackenzie IR, Baker M. Pickering-Brown S. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 2006;129:3081-3090.
27. Mesulam M-M. Primary progressive aphasia. Ann Neurol 2001;49:425-432.
28. 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 clincopathologic spectrum. J Neuropathol Exp Neurol 2005;64:730-739.
29. Ince PG, Lowe J, Shaw PJ. Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Neurobiol 1998;24:104-117.
30. Woulfe J, Kertesz A, Munoz DG. Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol 2001;102:94-102.
31. Rosso SM, Kamphorst W, de Graaf B. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 2001;124:1948-1957.
32. Rademakers R, Cruts M, Dermaut B. Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. Molec Psych 2002;7:1064-1074.
33. Mackenzie IRA, Feldman H. Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases. Acta Neuropathol 2003;105:543-548.
34. Mackenzie IRA, Feldman H. Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases. Dement Geriatr Cogn Disord 2004;17:333-336.
35. Bigio EH, Johnson NA, Rademaker AW. 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;63:801-811.
36. Plowman GD, Green JM, Neubauer MG. The epithelin precursor encodes two proteins with opposing activities on epithelial cell growth. J Biol Chem 1992;267:13073-13078.
37. He Z, Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Molec Med 2003;81:600-612.
38. Neumann M, Sampathu DM, Kwong LK. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.
39. Katsuse O, Dickson DW. Ubiquitin immunohistochemistry of frontotemporal lobar degeneration differentiates cases with and without motor neuron disease. Alzheimer Dis Assoc Disord 2005;19 (S1):S37-S43.
40. Sampathu DM, Neumann M, Kwong LK. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 2006;169:1343-1352.