Genetic causes of frontotemporal degeneration

Journal of Geriatric Psychiatry and Neurology

Volumn 23, Issue 4, 2010, Pages 260-268

  See, Tricia M ^a   Lamarre, Amanda K ^a   Lee, Suzee E ^a   Miller, Bruce L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

frontotemporal degeneration; FTD; genetics; GRN; MAPT; review

Indexed keywords

PROTEIN; PROTEIN CHMP2B; PROTEIN GRN; TAR DNA BINDING PROTEIN; TAU PROTEIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE LOCATION; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADENOSINE TRIPHOSPHATASES; ANIMALS; BRAIN; CELL CYCLE PROTEINS; DNA-BINDING PROTEINS; ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; FAMILY; FRONTOTEMPORAL LOBAR DEGENERATION; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; TAU PROTEINS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 78649240488     PISSN: 08919887     EISSN: 15525708     Source Type: Journal    
DOI: 10.1177/0891988710383574     Document Type: Review

References (84)

1. Hutton M., Lendon CL, Rizzu P., et al. Association of missense and 5g'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998 ; 393 (6686). 702-705.
2. Poorkaj P., Bird TD, Wijsman E., et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998 ; 43 (6). 815-825.
3. Spillantini MG, Murell 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 (13). 7737-7741.
4. Pickering-Brown SM The complex aetiology of frontotemporal lobar dementia. Expl Neurol. 2007 ; 206 (1). 1-10.
5. Bird T., Knopman D., VanSwieten J., et al. Epidemiology and genetics of frontotemporal dementia/Pickg's disease. Ann Neurol. 2003 ; 54 (suppl 5). S29 - S31.
6. Johnson JK, Diehl J., Mendez MF, et al. Frontotemporal lobar degeneration: demographic characteristics of 353 patients. Arch Neurol. 2005 ; 62 (6). 925-930.
7. Ratnavalli E., Brayne C., Dawson K., Hodges JR The prevalence of frontotemporal dementia. Neurology. 2002 ; 58 (11). 1615-1621.
8. Neary D., Snowden JS, Gustafson L., et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998 ; 51 (6). 1546-1554.
9. Rascovsky K., Hodges JR, Kipps CM, et al. Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): current limitations and future directions. Alzheimer Dis Assoc Disord. 2007 ; 21 (4). S14 - S18.
10. McKhann GM, Albert MS, Grossman M., et al. Clinical and pathological diagnosis of frontotemporal dementia: report of the work group on frontotemporal dementia and pickg's disease. Arch Neurol. 2001 ; 58 (11). 1803-1809.
11. Edwards-Lee T., Miller BL, Benson DF, et al. The temporal variant of Frontotemporal dementia. Brain. 1997 ; 120 (pt 6). 1027-1040.
12. Thompson SA, Patterson K., Hodges JR Left/right asymmetry of atrophy in semantic-dementia: behavioral-cognitive implications. Neurology. 2003 ; 61 (9). 1196-1203.
13. Gorno-Tempini ML, Rankin KP, Woolley JD, Rosen HJ, Phengrasamy L., Miller BL Cognitive and behavioral profile in a case of right anterior temporal lobe degeneration. Cortex. 2004 ; 40 (4-5). 631-644.
14. Duara R., Barker W., Luis CA Frontotemporal demenia and Alzheimerg's disease: differential diagnosis. Dement Geriatr Cogn Disord. 1999 ; 10 (suppl 1). 37-42.
15. Bozeat S., Gregory CA, Ralph MA, et al. Which neuropsychiatric and behavioral features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimerg's disease. J Neurol Neurosurg Psychiatry. 2000 ; 69 (2). 178-186.
16. Mendez MF, McMurtray A. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimers Dis Other Demen. 2006 ; 21 (4). 281-286.
17. Claasen DO, Parisi JE, Giannini C., Boeve BF, Dickson DW, Josephs KA Frontotemporal dementia mimicking dementia with lewy bodies. Cogn Behav Neurol. 2008 ; 21 (3). 157-163.
18. Nielsen TR, Bruhn P., Nielsen JE, Hjermind LE Behavioral variant of frontotemporal dementia mimicking Huntingtong's disease. Int Psychogeriatr. 2010 ; 22 (4). 674-677.
19. Mendez MF, Perryman KM, Miller BL, Swartz JR, Cummings JL Compulsive behaviors as presenting symptoms of frontotemporal dementia. J Geriatr Psychiatry Neurol. 1997 ; 10 (4). 154-157.
20. Mendez MF, McMurtray A., Chen AK, Shapira JS, Mishkin F., Miller BL Functional neuroimaging and presenting psychiatric features in frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2006 ; 77 (1). 4-7.
21. Padovani A., Agosti C., Premi E., Bellelli G., Borroni B. Extrapyradimal symptoms in frontotemporal dementia: prevalence and clinical correlations. Neurosci Lett. 2007 ; 422 (1). 39-42.
22. Lomen-Hoerth C., Anderson T., Miller, B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002 ; 59 (7). 1077-1079.
23. Lillo P., Hodges JR Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders. J Clin Neurosci. 2009 ; 16 (9). 1131-1135.
24. Tolnay M., Probst A. The neuropathological spectrum of neurodegenerative tauopathies. IUBMB Life. 2003 ; 55 (6). 299-305.
25. Lee VM, Goedert M., Trojanowski JQ Neurodegenerative tauopathies. Annu Rev Neurosci. 2001 ; 24: 1121-1159.
26. Cairns NJ, Bigio EH, Mackenzie IR, et al. Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol. 2007 ; 114 (1). 5-22.
27. Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology. 2006 ; 66 (1). 41-48.
28. Stanford PM, Brooks WS, Teber ET, et al. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 2004 ; 251 (9). 1098-1104.
29. Ringholz GM, Greene SR The relationship between amyotrophic lateral sclerosis and Frontotemporal dementia. Curr Neurol Neurosci Rep. 2006 ; 6 (5). 387-392.
30. Strong MJ, Grace GM, Freedman M., et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009 ; 10 (3). 131-146.
31. Mackenzie IR The neuropathology of FTD associated with ALS. Alzheimer Dis Assoc Disord. 2007 ; 21 (4). S44 - S49.
32. Neumann M., Tolnay M., Mackenzie IR The molecular basis of frontotemporal dementia. Expert Rev Mol Med. 2009 ; 11: e23.
33. Pijnenburg YA, Gillissen F., Jonker C., Scheltens P. Initial complaints in frontotemporal lobar dementia. Dement Geriatr Cogn Disord. 2004 ; 17 (4). 302-306.
34. Wittenberg D., Possin KL, Rascovsky KP, Rankin KP, Miller BL, Kramer JH The early neuropsychological and behavioral characteristics of frontotemporal dementia. Neuropsychol Rev. 2008 ; 18 (1). 91-102.
35. Gass J., Cannon A., Mackenzie IR, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006 ; 15 (20). 2988-3001. (Pubitemid 44530703)
36. Lynch T., Sano M., Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology. 1994 ; 44 (10). 1878-1884.
37. Wilhelmsen KC, Lynch T., Pavlou E., Higgins M., Nygaard TG Localization of disinhibition-dementia-parkinsonism-amyotrophy complext to 17q21-22. Am J Hum Genet. 1994 ; 55 (6). 1159-1165.
38. Baker M., Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative Frontotemporal dementia linked to chromosome 17. Nature. 2006 ; 442 (7105). 916-919. (Pubitemid 44285946)
39. Neumann M., Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006 ; 314 (5796). 130-133.
40. Van Deerlin VM, Sleiman PM, Martinez-Lage M., et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet. 2010 ; 42 (3). 234-239.
41. Rosso SM, Donker Kaat L., Baks T., et al. Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain. 2003 ; 126 (pt 9). 2016-2022.
42. Rizzu P., van Mil SE, Anar B., et al. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet. 2006 ; 141B: 944-946.
43. Seelaar H., Kamphorst W., Rosso SM, et al. Distinct genetic forms of frontotemporal dementia. Neurology. 2008 ; 71 (16). 1220-1226.
44. Goldman JS, Farmer JM, Wood EM, et al. Comparison of family histories in FTLD subtypes and related tauopathies. Neurology. 2005 ; 65 (11). 1817-1819.
45. Wood E., Clay D., Van Deerlin V., et al. Pedigree classification for frontotemporal degeneration: implementation and discussion of proposed criteria. 2008. Poster presented at the 6th International Conference on Frontotemporal Dementia: Rotterdam, Netherlands.
46. Miller BL, Cummings JL, Villaneuva-Meyer J., et al. Frontal lobe degeneration: clinical, neuropsychological, and SPECT characteristics. Neurology. 1991 ; 41 (9). 1374-1382.
47. Risberg J., Gustafson L. Regional cerebral blood flow measurements in the clinical evaluation of demented patients. Dement Geriatr Cogn Disord. 1997 ; 8 (2). 92-97.
48. Cairns NJ, Lee VM, Trojanowski JQ The cytoskeleton in neurodegenerative diseases. J Pathol. 2004 ; 204 (4). 438-449.
49. Garparini L., Terni B., Spillantini MG Frontotemporal dementia with tau pathology. Neurodegener Dis. 2007 ; 4 (2-3). 236-253.
50. Shaw-Smith C., Pittman AM, Willatt L., et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006 ; 38 (9). 1032-1037.
51. Poorkaj P., Grossman M., Steinbart E., et al. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol. 2001 ; 58 (3). 383-387.
52. Rizzu P., Van Swieten JC, Joosse M., et al. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet. 1999 ; 64 (2). 414-421.
53. Lantos PL, Cairns NJ, Khan MN, et al. Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology. 2002 ; 58 (8). 1169-1175.
54. Spillantini MG, Van Swieten JC, Goedert M. Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Neurogenetics. 2000 ; 2 (4). 193-205. (Pubitemid 30195998)
55. Wilhelmsen KC, Forman MS, Rosen HJ, et al. 17q-linked Frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. Arch Neurol. 2004 ; 61 (3). 393-406.
56. Pickering-Brown SM, Rollinson S., Du Plessis D., et al. 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. 2008 ; 131 (pt 3). 721-731.
57. Rohrer JD, Ridgway GR, Modat M., et al. Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. Neuroimage. 2010. Jan 4. [Epub ahead of print].
58. van Swieten JC, Stevens M., Rosso SM, et al. Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol. 1999 ; 46 (4). 617-626.
59. Baker M., Litvan I., Houlden H., et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet. 1999 ; 8 (4). 711-715. (Pubitemid 29139987)
60. Skipper L., Wilkes K., Toft M., et al. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am J Hum Genet. 2004 ; 75 (4). 669-677.
61. Myers AJ, Kaleem M., Marlowe L., et al. The H1c haplotype at the MAPT locus is associated with Alzheimerg's disease. Hum Mol Genet. 2005 ; 14 (16). 2399-2404.
62. Pittman AM, Myers AJ, Abou-Sleiman P., et al. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet. 2005 ; 42 (11). 837-846.
63. Van Damme P., Van Hoecke A., Lambrechts D., et al. Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol. 2008 ; 181 (1). 37-41.
64. Finch N., Baker M., Crook R., et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain. 2009 ; 132 (pt 3 )s): 583-591.
65. Mackenzie IR, Baker M., West G., et al. A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain. 2006 ; 129 (pt 4). 853-867.
66. Bruni AC, Momeni P., Bernardi L., et al. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology. 2007 ; 69 (2). 140-147.
67. Yu CE, Bird TD, Bekris LM, et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neuro-degeneration. Arch Neurol. 2010 ; 67 (2). 161-170.
68. van der Zee J., Pirici D., Van Langenhove T., et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. Neurology. 2009 ; 73 (8). 626-632.
69. Watts GD, 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. Nat Genet. 2004 ; 36 (4). 377-381.
70. Daroszewska A., Ralson SH Mechanisms of disease: genetics of Pagetg's disease of bone and related disorders. Nat Clin Pract Rheumatol. 2006 ; 2 (5). 270-277.
71. Lucas GJ, Mehta SG, Hocking LJ, et al. Evaluation of the role of valosin-containing protein in the pathogenesis of familial and sporadic Pagetg's disease of bone. Bone. 2006 ; 38 (2). 280-285.
72. Kovach MJ, Waggoner B., Leal SM, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001 ; 74 (4). 458-475.
73. Guyant-Marechal L., Laquerriere A., Duyckaerts C., et al. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology. 2006 ; 67 (4). 644-651.
74. Gydesen S., Hagen S., Klinken L., et al. Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. Acta Psychiatr Scand. 1987 ; 76 (3). 276-284.
75. Cox LE, Ferraiuolo L., Goodall EF, et al. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One. 2010 ; 5 (3). e9872.
76. Holm IE, Englund E., Mackenzie IRA, et al. A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3 (FTD-3). J Neuropathol Exp Neurol. 2007 ; 66 (10). 884-891.
77. Hosler BA, Siddique T., Sapp PC, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 2000 ; 284 (13). 1664-1669.
78. Morita M., Al-Chalabi A., Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006 ; 66 (6). 839-844.
79. Valdmanis PN, Dupre N., Bouchard JP, et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol. 2007 ; 64 (2). 240-245.
80. Rutherford NJ, Zhang YJ, Baker M., et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet. 2008 ; 4 (9). e1000193.
81. Mackenzie IR, Bigio EH, Ince PG, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol. 2007 ; 61 (5). 427-434.
82. Macedo MN, Kim E., Seeley WW The neuropathology of dementia. In: Miller BL, Boeve BF, eds. The Behavioral Neurology of Dementia. New York, NY: Cambridge University Press, 2009: 142-160.
83. Riedijk SR, Niermeijer MF, Dooijes D., et al. A decade of genetic counseling in frontotemporal dementia affected families: few counseling requests and much familial opposition to testing. J Genet Couns. 2009 ; 18 (4). 350-356.
84. Chow TW, Miller BL, Hayashi VN, Geschwind DH Inheritance of frontotemporal dementia. Arch Neurol. 1999 ; 56 (7). 817-822.