Challenges and new opportunities in the investigation of new drug therapies to treat frontotemporal dementia

Expert Opinion on Therapeutic Targets

Volumn 12, Issue 11, 2008, Pages 1367-1376

  Huey, Edward D ^a,b   Armstrong, Nicole ^a,b   Momeni, Parastoo ^c   Grafman, Jordan ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b North Shore/Long Island Jewish Healthcare System ^*  (United States)

^c TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

Author keywords

Frontotemporal dementia; Medication treatment; Neurodegenerative disorders; Neuroprotection

Indexed keywords

ANTIINFLAMMATORY AGENT; CHROMATIN MODIFYING PROTEIN 2B; DNA BINDING PROTEIN; DNA BINDING PROTEIN TAR43; DOPAMINE RECEPTOR STIMULATING AGENT; GALANTAMINE; GENE PRODUCT; GLYCOGEN SYNTHASE KINASE 3; LITHIUM; MEMANTINE; ONXOL; PACLITAXEL; PLACEBO; PROGRANULIN; PROTEIN MAPT; TACROLIMUS; TAU PROTEIN; TOLCAPONE; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN; VALPROIC ACID;

AMYOTROPHIC LATERAL SCLEROSIS; BONE MARROW SUPPRESSION; CLINICAL TRIAL; COGNITIVE DEFECT; DIFFERENTIAL DIAGNOSIS; DISEASE MARKER; DRUG EFFICACY; DRUG MECHANISM; DRUG SAFETY; DRUG TOLERABILITY; EARLY DIAGNOSIS; ENZYME INHIBITION; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFLAMMATION; MICROTUBULE ASSEMBLY; NEUROPROTECTION; NONHUMAN; PATHOGENESIS; PSYCHOPATHY; REVIEW;

ANIMALS; CENTRAL NERVOUS SYSTEM AGENTS; DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICE; TAU PROTEINS;

EID: 56249100405     PISSN: 14728222     EISSN: None     Source Type: Journal    
DOI: 10.1517/14728222.12.11.1367     Document Type: Review

References (115)

1. Lund/Manchester. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 1994;57:416-8
2. Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-54
3. McKhann GM, Albert MS, Grossman M, et al. 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
4. Le Ber I, Guedj E, Gabelle A, et al. Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. Brain 2006;129:3051-65
5. Knibb JA, Hodges JR. Semantic dementia and primary progressive aphasia: a problem of categorization? Alzheimer Dis Assoc Disord 2005;(19 Suppl 1):S7-14
6. Mesulam MM. Primary progressive aphasia - a language-based dementia. N Engl J Med 2003;349:1535-42
7. Libon DJ, Xie SX, Moore P, et al. Patterns of neuropsychological impairment in frontotemporal dementia. Neurology 2007;68:369-75
8. Elderkin-Thompson V, Boone KB, Hwang S, Kumar A. Neurocognitive profiles in elderly patients with frontotemporal degeneration or major depressive disorder. J Int Neuropsychol Soc 2004;10:753-71
9. Wittenberg D, Possin KL, Rascovsky K, et al. The early neuropsychological and behavioral characteristics of frontotemporal dementia. Neuropsychol Rev 2008;18:91-102
10. Neary D, Snowden J, Mann D. Frontotemporal dementia. Lancet Neurol 2005;4:771-80
11. 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;126:2016-22
12. Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology 2002;58:1615-21
13. Bird T, Knopman D, VanSwieten J, et al. Epidemiology and genetics of frontotemporal dementia/Pick's disease. Ann Neurol 2003;54:S29-31
14. The Clinical Diagnosis and Imaging/Biomarkers Group Summary and Suggestions for Future Resource Development and Research Initiatives Frontotemporal Dementia Workshop. Available from: http://www.ninds.nih.gov/news_and_events/proceedings/ Frontotemporal_Dementia_Workshop.htm [Last accessed September 24 2008]
15. Gorno-Tempini ML, Dronkers NF, Rankin KP, et al. Cognition and anatomy in three variants of primary progressive aphasia. Ann Neurol 2004;55:335-46
16. Seeley WW, Crawford R, Rascovsky K, et al. Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia. Arch Neurol 2008;65:249-55
17. Zahn R, Moll J, Krueger F, et al. Social concepts are represented in the superior anterior temporal cortex. Proc Natl Acad Sci USA 2007;104:6430-5
18. Seeley WW, Bauer AM, Miller BL, et al. The natural history of temporal variant frontotemporal dementia. Neurology 2005;64:1384-90
19. Rosso SM, Roks G, Stevens M, et al. Complex compulsive behaviour in the temporal variant of frontotemporal dementia. J Neurol 2001;248:965-70
20. Hodges JR, Patterson K. Semantic dementia: a unique clinicopathological syndrome. Lancet Neurol 2007;6:1004-14
21. Pick A. Uber die Beziehungen der senilen Hirnatrophie zur Aphasie. Prager Medizinische Wochenschrift 1892;17:165-7
22. 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 (Berl) 2007;114:5-22
23. Mackenzie JR, Shi J, Shaw CL, et al. Dementia lacking distinctive histology (DLDH) revisited. Acta Neuropathol 2006;112(5):551-9
24. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-3
25. Mackenzie IR, Foti D, Woulfe J, Hurwitz TA. Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions. Brain 2008;131:1282-93
26. Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002;59:1077-79
27. Hodges JR, Davies RR, Xuereb JH, et al. Clinicopathological correlates in frontotemporal dementia. Ann Neurol 2004;56:399-406
28. Alzheimer A. Uber eigenartige Krankheitsfalle des spate en Alters. Zeitschrift fur die Gesamte Neurologie und Psychiatrie. 1911;4:356-85
29. Mackenzie IR, Rademakers R. The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics 2007;8(4):237-48
30. Josephs KA, Duffy JR, Strand EA, et al. Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain 2006;129:1385-98
31. The Pathology Working Group Summary and Suggestions for Future Resource Development and Research Initiatives Frontotemporal Dementia Workshop. Available from: http://www.ninds.nih.gov/news_and_events/ proceedings/Frontotemporal_Dementia_Workshop.htm [Last accessed September 24 2008]
32. Knopman DS, Boeve BS, Caselli RJ, et al. Longitudinal tracking of FTLD: toward developing clinical trial methodology. Alzheimer Dis Assoc Disord 2007;21:S58-63
33. Huey ED, Putnam KT, Grafman J. A systematic review of neurotransmitter deficits and treatments in frontotemporal dementia. Neurology 2006;66:17-22
34. Freedman M. Frontotemporal dementia recommendations for therapeutic studies, designs, and approaches. Can J Neurol Sci 2007;34:S118-24
35. Merrilees J. A model for management of behavioral symptoms in frontotemporal lobar degeneration. Alzheimer Dis Assoc Disord 2007;21(4):S64-69
36. Chow TW. Treatment approaches to symptoms associated with frontotemporal degeneration. Curr Psychiatry Rep 2005;7(5):376-80
37. Cummings JL, Mega M, Gray K, et al. The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia. Neurology 1994;44:2308-14
38. Dworkin RH, Katz J, Gitlin MJ. Placebo response in clinical trials of depression and its implications for research on chronic neuropathic pain. Neurology 2005;65:S7-19
39. Kertesz A, McMonagle P, Blair M, et al. The evolution and pathology of frontotemporal dementia. Brain 2005;128:1996-2005
40. Rogawski MA, Wenk GL. The neuropharmacological basis for the use of memantine in the treatment of Alzheimer's disease. CNS Drug Rev 2003;9:275-308
41. Diehl-Schmid J, Forstl H, Perneczky R, et al. A 6-month, open-label study of memantine in patients with frontotemporal dementia. Int J Geriatr Psychiatry 2008;23(7):754-9
42. Available from: www.clinicaltrials.gov/ct2/show/ NCT00545974?term=frontotemporal+dementia&rank=. [Last accessed September 24 2008]
43. Available from: www.clinicaltrials.gov/ct2/show/ NCT00200538?term=frontotemporal+dementia&rank=11. [Last accessed September 24 2008]
44. Kertesz A, Morlog D, Light M, et al. Galantamine in frontotemporal dementia and primary progressive aphasia. Dement Geriatr Cogn Disord 2008;25:178-85
45. Williams SM, Goldman-Rakic PS. Widespread origin of the primate mesofrontal dopamine system. Cereb Cortex 1998;8:321-45
46. Tan HY, Chen Q, Goldberg TE, et al. Catechol-O-methyltransferase Val158Met modulation of prefrontal-parietal-striatal brain systems during arithmetic and temporal transformations in working memory. J Neurosci 2007;27:13393-401
47. Available from: www.clinicaltrials.gov/ct2/show/ NCT00127114?term=frontotemporal+dementia&rank=10. [Last accessed September 24 2008]
48. Gogos JA, Morgan M, Luine V, et al. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci USA 1998;95:9991-6
49. Huotari M, Gogos JA, Karayiorgou M, et al. Brain catecholamine metabolism in catechol-O-methyltransferase (COMT)-deficient mice. Eur J Neurosci 2002;15:246-56
50. Apud JA, Mattay V, Chen J, et al. Tolcapone improves cognition and cortical information processing in normal human subjects. Neuropsychopharmacology 2006;32:1011-20
51. Available from: www.clinicaltrials.gov/ct2/show/ NCT00604591?term=frontotemporal+dementia&rank=9. [Last accessed September 24 2008]
52. Coppola G, Karydas A, Rademakers R, et al. Gene expression study on peripheral blood identifies progranulin mutations. Ann Neurol 2008;64(1):92-6
53. Foulds P, McAuley E, Gibbons L, et al. TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration. Acta Neuropathol 2008;116(2):141-6
54. Hardy J, Momeni P, Traynor BJ. Frontal temporal dementia: dissecting the aetiology and pathogenesis. Brain 2006;129:830-1
55. Huey ED, Grafman J, Wassermann EM, et al. Characteristics of frontotemporal dementia patients with a progranulin mutation. Ann Neurol 2006;60:374-80
56. Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005;37:806-8
57. 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;36:377-81
58. Vance C, Al-Chalabi A, Ruddy D, 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
59. Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006;66:839-44
60. Momeni P, Schymick J, Jain S, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 2006;6:44
61. Blair IP, Bennett CL, Abel A, et al. A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. Neurogenetics 2000;3(1):1-6
62. 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):1664-9
63. Ostojic J, Axelman K, Lannfelt L, Froelich-Fabre S. No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis. Neurosci Lett 2003;340(3):245-7
64. 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;58:383-7
65. Rosso SM, Kamphorst W, de Graaf B, et al. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 2001;124:1948-57
66. Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916-9
67. Andreadis A, Brown WM, Kosik KS. Structure and novel exons of the human tau gene. Biochemistry 1992;31:10626-33
68. Available from: http://www.molgen.ua.ac.be/ADMutations/ default.cfm?MT=1&ML=1&Page=MutByQuery&Query=tblContexts. GeneSymbol%20In%20('MAPT')&Selection=Gene%20In%20(MAPT)& CFID=136313&CFTOKEN=48500543
69. Brandt R, Hundelt M, Shahani N. Tau alteration and neuronal degeneration in tauopathies: mechanisms and models. Biochim Biophys Acta 2005;1739:331-54
70. Delacourte A, Robitaille Y, Sergeant N, et al. Specific pathological Tau protein variants characterize Pick's disease. J Neuropathol Exp Neurol 1996;55:159-68
71. Buee Scherrer V, Hof PR, Buee L, et al. Hyperphosphorylated tau proteins differentiate corticobasal degeneration and Pick's disease. Acta Neuropathol 1996;91:351-9
72. Wada H, Nakajoh K, Satoh-Nakagawa T, et al. Risk factors of aspiration pneumonia in Alzheimer's disease patients. Gerontology 2001;47:271-6
73. Togo T, Sahara N, Yen SH, et al. Argyrophilic grain disease is a sporadic 4-repeat tauopathy. J Neuropathol Exp Neurol 2002;61:547-56
74. Malkani R, D'Souza I, Gwinn-Hardy K, et al. MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiol Dis 2006;22:401-3
75. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-5
76. Spillantini MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998;95:7737-41
77. Momeni P, Pittman A, Lashley T, et al. Clinical and pathological features of an Alzheimer's disease patient with the MAPT ΔK280 mutation. Neurobiol Aging: Published online 27 August 2007. doi:10.1016/ j.neurobiolaging.2007.07.013
78. Dawson HN, Cantillana V, Chen L, Vitek MP. The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. J Neurosci 2007;27(34):9155-68
79. Hutton M. "Missing" tau mutation identified. Ann Neurol 2000; 47:417-8
80. Buguiani O, Murrell JR, Giaccone G, et al. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 1999;58:667-77
81. Hasegawa M, Smith MJ, Goedert M. Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 1998;437:207-10
82. Goedert M, Jakes R, Crowther RA. Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments. FEBS Lett 1999;450:306-11
83. Rademakers R, Baker M, Gass J, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative. Lancet Neurol 2007;6(10):857-68
84. Eriksen JL, Mackenzie IR. Progranulin: normal function and role in neurodegeneration. J Neurochem 2008;104:287-97
85. Daniel R, He Z, Carmichael KP, et al. Cellular localization of gene expression for progranulin. J Histochem Cytochem 2000;48:999-1009
86. Bateman A, Belcourt D, Bennett H, et al. Granulins, a novel class of peptide from leukocytes. Biochem Biophys Res Commun 1990;173:1161-8
87. 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
88. Zhu J, Nathan C, Jin W, et al. Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair. Cell 2002;111:867-78
89. Le Ber I, Camuzat A, Hannequin D, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging, and genetic study. Brain 2008;131:732-46
90. 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;131:721-31
91. Beck J, Rohrer JD, Campbell T, et al. A distinct clinical, neuropsychological, and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain 2008;131:706-20
92. Anderton BH, Betts J, Blackstock WP, et al. Sites of phosphorylation in tau and factors affecting their regulation. Biochem Soc Symp 2001;73-80
93. The Therapeutics Working Group Summary and Suggestions for Future Resource Development and Research Initiatives Frontotemporal Dementia Workshop. Available from: www.ninds.nih.gov/news_and_events/ proceedings/Frontotemporal_Dementia_Workshop.htm 2007
94. Gotschel F, Kern C, Lang S, et al. Inhibition of GSK3 differentially modulates NF-κB, CREB, AP-1 and β-catenin signaling in hepatocytes, but fails to promote TNF-α-induced apoptosis. Exp Cell Res 2008;314:1351-66
95. Gomez-Ramos A, Dominguez J, Zafra D, et al. Inhibition of GSK3 dependent tau phosphorylation by metals. Curr Alzheimer Res 2006;3:123-7
96. Kim AJ, Shi Y, Austin RC, Werstuck GH. Valproate protects cells from ER stress-induced lipid accumulation and apoptosis by inhibiting glycogen synthase kinase-3. J Cell Sci 2005;118:89-99
97. Engel T, Goni-Oliver P, Gomez de Barreda E, et al. Lithium, a potential protective drug in Alzheimer's disease. Neurodegener Dis 2008;5:247-9
98. Engel T, Goni-Oliver P, Lucas JJ, et al. Chronic lithium administration to FTDP-17 tau and GSK-3β overexpressing mice prevents tau hyperphosphorylation and neurofibrillary tangle formation, but pre-formed neurofibrillary tangles do not revert. J Neurochem 2006;99:1445-55
99. Le Corre S, Klafki HW, Plesnila N, et al. An inhibitor of tau hyperphosphorylation prevents severe motor impairments in tau transgenic mice. Proc Natl Acad Sci USA 2006;103:9673-8
100. Fornai F, Longone P, Cafaro L, et al. Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2008;105:2052-7
101. Phiel CJ, Klein PS. Molecular targets of lithium action. Annu Rev Pharmacol Toxicol 2001;41:789-813
102. Berridge MJ, Downes CP, Hanley MR. Neural and developmental actions of lithium: a unifying hypothesis. Cell 1989;59:411-9
103. Ward ME, Musa MN, Bailey L. Clinical pharmacokinetics of lithium. J Clin Pharmacol 1994;34:280-5
104. Haddjeri N, Szabo ST, de Montigny C, Blier P. Increased tonic activation of rat forebrain 5-HT(1A) receptors by lithium addition to antidepressant treatments. Neuropsychopharmacology 2000;22:346-56
105. Massot O, Rousselle JC, Fillion MP, et al. 5-HT1B receptors: a novel target for lithium. Possible involvement in mood disorders. Neuropsychopharmacology 1999;21:530-41
106. Macdonald A, Briggs K, Poppe M, et al. A feasibility and tolerability study of lithium in Alzheimer's disease. Int J Geriatr Psychiatry 2008;23:704-11
107. Mur M, Portella MJ, Martinez-Aran A, et al. Persistent neuropsychological deficit in euthymic bipolar patients: executive function as a core deficit. J Clin Psychiatry 2007;68:1078-86
108. Senturk V, Goker C, Bilgic A, et al. Impaired verbal memory and otherwise spared cognition in remitted bipolar patients on monotherapy with lithium or valproate. Bipolar Disord 2007;9(Suppl 1):136-44
109. Rowinsky EK, Donehower RC. Paclitaxel (Taxol). N Engl J Med 1995;332:1004
110. Ahmed Z, Mackenzie IR, Hutton ML, Dickson DW. Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation 2007;4(7):1-13
111. Yoshiyama Y, Higuchi M, Zhang B, et al. Synapse loss and microglial activation precede tangles in a P301S tauopathy mouse model. Neuron 2007;53:337-51
112. The Genetics Working Group Summary and Suggestions for Future Resource Development and Research Initiatives Frontotemporal Dementia Workshop. Available from: www.ninds.nih.gov/news_and_events/proceedings/ Frontotemporal_Dementia_Workshop.htm 2007. [Last accessed September 24 2008]
113. Rankin KP, Santos-Modesitt W, Kramer JH, et al. Spontaneous social behaviors discriminate behavioral dementias from psychiatric disorders and other dementias. J Clin Psychiatry 2008;69:60-73
114. Diagnostic and statistical manual of mental disorders DSM-IV-TR. Washington, DC: American Psychiatric Association, 2000
115. Boxer AL, Boeve BF. Frontotemporal dementia treatment: current symptomatic therapies and implications of recent genetic, biochemical, and neuroimaging studies. Alzheimer Dis Assoc Disord 2007;21:S79-87