Biomarkers in dementia: Clinical utility and new directions

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 12, 2014, Pages 1426-1434

  Ahmed, R M ^a   Paterson, R W ^b   Warren, J D ^b   Zetterberg, H ^b,c   O'Brien, J T ^d   Fox, N C ^b   Halliday, G M ^a   Schott, J M ^b  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; FLUORODEOXYGLUCOSE F 18; GLYCOPROTEIN; GLYCOPROTEIN YKL 40; HEXAMETHYLPROPYLENE AMINE OXIME TECHNETIUM TC 99M; INTERLEUKIN 17; INTERLEUKIN 23; ISOPROSTANE DERIVATIVE; NEUROFILAMENT LIGHT PROTEIN; NEUROFILAMENT PROTEIN; PHOSPHORYLATED TAU 181; PROGRANULIN; PROTEIN S100B; TAR DNA BINDING PROTEIN; TAU PROTEIN; UNCLASSIFIED DRUG; BIOLOGICAL MARKER;

ALZHEIMER DISEASE; BLOOD; CEREBROSPINAL FLUID EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; DIFFUSE LEWY BODY DISEASE; DIFFUSION TENSOR IMAGING; FRONTOTEMPORAL DEMENTIA; FUNCTIONAL MAGNETIC RESONANCE IMAGING; HUMAN; NERVOUS SYSTEM INFLAMMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PROTEIN CEREBROSPINAL FLUID LEVEL; REVIEW; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; URINE; BRAIN; CEREBROSPINAL FLUID; DEMENTIA; FUNCTIONAL NEUROIMAGING; NEUROIMAGING; PATHOLOGY;

BIOMARKERS; BRAIN; DEMENTIA; FUNCTIONAL NEUROIMAGING; HUMANS; NEUROIMAGING;

EID: 84912558026     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-307662     Document Type: Review

References (100)

1. Biomarkers Definitions Working G. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 2001;69:89-95.
2. Harper L, Barkhof F, Scheltens P, et al. An algorithmic approach to structural imaging in dementia. J Neurol Neurosurg Psychiatry 2014;85:692-8.
3. Ahmed RM, Murphy E, Davagnanam I, et al. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry 2014;85:770-81.
4. Kipps CM, Hodges JR, Fryer TD, et al. Combined magnetic resonance imaging and positron emission tomography brain imaging in behavioural variant frontotemporal degeneration: refining the clinical phenotype. Brain 2009;132:2566-78.
5. Bajaj N, Hauser RA, Grachev ID. Clinical utility of dopamine transporter single photon emission CT (DaT-SPECT) with (123I) ioflupane in diagnosis of parkinsonian syndromes. J Neurol Neurosurg Psychiatry 2013;84:1288-95.
6. Svedberg MM, Rahman O, Hall H. Preclinical studies of potential amyloid binding PET/SPECT ligands in Alzheimer's disease. Nucl Med Biol 2012;39:484-501.
7. Rossor MN, Fox NC, Mummery CJ, et al. The diagnosis of young-onset dementia. Lancet Neurol 2010;9:793-806.
8. Atarashi R, Sano K, Satoh K, et al. Real-time quaking-induced conversion: a highly sensitive assay for prion detection. Prion 2011;5:150-3.
9. Bartlett JW, Frost C, Mattsson N, et al. Determining cut-points for Alzheimer's disease biomarkers: statistical issues, methods and challenges. Biomark Med 2012;6:391-400.
10. Manwaring V, Heywood WE, Clayton R, et al. The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients. J Proteome Res 2013;12:2013-21.
11. Ott A, Breteler MM, van Harskamp F, et al. Prevalence of Alzheimer's disease and vascular dementia: association with education. The Rotterdam study. BMJ 1995;310:970-3.
12. Itagaki S, McGeer PL, Akiyama H, et al. Relationship of microglia and astrocytes to amyloid deposits of Alzheimer disease. J Neuroimmunol 1989;24:173-82.
13. Charidimou A, Gang Q, Werring DJ. Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum. J Neurol Neurosurg Psychiatry 2012;83:124-37.
14. Lambert JC, Ibrahim-Verbaas CA, Harold D, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 2013;45:1452-8.
15. McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011;7:263-9.
16. McKhann G, Drachman D, Folstein M, et al. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34:939-44.
17. Sperling RA, Aisen PS, Beckett LA, et al. Toward defining the preclinical stages of Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011;7:280-92.
18. Albert MS, DeKosky ST, Dickson D, et al. The diagnosis of mild cognitive impairment due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011;7:270-9.
19. Jack CR Jr, Knopman DS, Jagust WJ, et al. Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol 2010;9:119-28.
20. Duara R, Loewenstein DA, Potter E, et al. Medial temporal lobe atrophy on MRI scans and the diagnosis of Alzheimer disease. Neurology 2008;71:1986-92.
21. Burton EJ, Barber R, Mukaetova-Ladinska EB, et al. Medial temporal lobe atrophy on MRI differentiates Alzheimer's disease from dementia with Lewy bodies and vascular cognitive impairment: a prospective study with pathological verification of diagnosis. Brain 2009;132:195-203.
22. Frisoni GB, Fox NC, Jack CR Jr, et al. The clinical use of structural MRI in Alzheimer disease. Nat Rev Neurol 2010;6:67-77.
23. Hoffman JM, Welsh-Bohmer KA, Hanson M, et al. FDG PET imaging in patients with pathologically verified dementia. J Nucl Med 2000;41:1920-8.
24. Mosconi L, Berti V, Glodzik L, et al. Pre-clinical detection of Alzheimer's disease using FDG-PET, with or without amyloid imaging. J Alzheimers Dis 2010;20:843-54.
25. Clark CM, Schneider JA, Bedell BJ, et al. Use of florbetapir-PET for imaging beta-amyloid pathology. JAMA 2011;305:275-83.
26. Dubois B, Feldman HH, Jacova C, et al. Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. Lancet Neurol 2014;13:614-29.
27. Chételat G, La Joie R, Villain N, et al. Amyloid imaging in cognitively normal individuals, at-risk populations and preclinical Alzheimer's disease. Neuroimage Clin 2013;2:356-65.
28. Donaghy P, Thomas AJ, O'Brien JT. Amyloid PET imaging in Lewy body disorders. Am J Geriatr Psychiatry 2013: pii: S1552-5260(14)00029-6. [Epub ahead of print, 3 Jul 2013].
29. Radiologists RCoPaRCo. Evidence- based indications for the use of PET-CT in the UK 2013. 2013.
30. Seppala TT, Nerg O, Koivisto AM, et al. CSF biomarkers for Alzheimer disease correlate with cortical brain biopsy findings. Neurology 2012;78:1568-75.
31. Moghekar A, Li S, Lu Y, et al. CSF biomarker changes precede symptom onset of mild cognitive impairment. Neurology 2013;81:1753-8.
32. Mattsson N, Zetterberg H, Hansson O, et al. CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment. JAMA 2009;302:385-93.
33. Wiltfang J, Esselmann H, Bibl M, et al. Amyloid beta peptide ratio 42/40 but not A beta 42 correlates with phospho-tau in patients with low- and high-CSF A beta 40 load. J Neurochem 2007;101:1053-9.
34. Verwey NA, Kester MI, van der Flier WM, et al. Additional value of CSF amyloid-beta 40 levels in the differentiation between FTLD and control subjects. J Alzheimers Dis 2010;20:445-52.
35. Slaets S, Le Bastard N, Martin JJ, et al. Cerebrospinal fluid Abeta1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels. J Alzheimers Dis 2013;36:759-67.
36. Sjogren M, Davidsson P, Tullberg M, et al. Both total and phosphorylated tau are increased in Alzheimer's disease. J Neurol Neurosurg Psychiatry 2001;70:624-30.
37. Blennow K, Zetterberg H, Minthon L, et al. Longitudinal stability of CSF biomarkers in Alzheimer's disease. Neurosci Lett 2007;419:18-22.
38. Hansson O, Zetterberg H, Buchhave P, et al. Association between CSF biomarkers and incipient Alzheimer's disease in patients with mild cognitive impairment: a follow-up study. Lancet Neurol 2006;5:228-34.
39. Rosén C, Hansson O, Blennow K, et al. Fluid biomarkers in Alzheimer's disease - current concepts. Mol Neurodegener 2013;8:20.
40. Paterson RW, Toombs J, Slattery CF, et al. Biomarker modelling of early molecular changes in Alzheimer's disease. Mol Diagn Ther 2014;18:213-27.
41. Stomrud E, Hansson O, Blennow K, et al. Cerebrospinal fluid biomarkers predict decline in subjective cognitive function over 3 years in healthy elderly. Dement Geriatr Cogn Disord 2007;24:118-24.
42. Duits FH, Teunissen CE, Bouwman FH, et al. The cerebrospinal fluid "Alzheimer profile": easily said, but what does it mean? Alzheimers Dement 2014: pii: S1064-7481(13)00168-1. [Epub ahead of print, 7 Apl 2014].
43. Filippini N, MacIntosh BJ, Hough MG, et al. Distinct patterns of brain activity in young carriers of the APOE-epsilon4 allele. Proc Natl Acad Sci USA 2009;106:7209-14.
44. Sala-Llonch R, Fortea J, Bartres-Faz D, et al. Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study. J Alzheimers Dis 2013;36:165-75.
45. Alsop DC, Dai W, Grossman M, et al. Arterial spin labeling blood flow MRI: its role in the early characterization of Alzheimer's disease. J Alzheimers Dis 2010;20:871-80.
46. Zhang W, Arteaga J, Cashion DK, et al. A highly selective and specific PET tracer for imaging of tau pathologies. J Alzheimers Dis 2012;31:601-12.
47. Hardy JA, Higgins GA. Alzheimer's disease: the amyloid cascade hypothesis. Science 1992;256:184-5.
48. Schott JM, Revesz T. Inflammation in Alzheimer's disease: insights from immunotherapy. Brain 2013;136:2654-6.
49. Peskind ER, Griffin WS, Akama KT, et al. Cerebrospinal fluid S100B is elevated in the earlier stages of Alzheimer's disease. Neurochem Int 2001;39:409-13.
50. Petzold A, Jenkins R, Watt HC, et al. Cerebrospinal fluid S100B correlates with brain atrophy in Alzheimer's disease. Neurosci Lett 2003;336:167-70.
51. Craig-Schapiro R, Perrin RJ, Roe CM, et al. YKL-40: a novel prognostic fluid biomarker for preclinical Alzheimer's disease. Biol Psychiatry 2010;68:903-12.
52. Brys M, Pirraglia E, Rich K, et al. Prediction and longitudinal study of CSF biomarkers in mild cognitive impairment. Neurobiol Aging 2009;30:682-90.
53. Thorsell A, Bjerke M, Gobom J, et al. Neurogranin in cerebrospinal fluid as a marker of synaptic degeneration in Alzheimer's disease. Brain Res 2010;1362:13-22.
54. Doecke JD, Laws SM, Faux NG, et al. Blood-based protein biomarkers for diagnosis of Alzheimer disease. Arch Neurol 2012;69:1318-25.
55. Kiddle SJ, Sattlecker M, Proitsi P, et al. Candidate blood proteome markers of Alzheimer's disease onset and progression: a systematic review and replication study. J Alzheimers Dis 2014;38:515-31.
56. Mapstone M, Cheema AK, Fiandaca MS, et al. Plasma phospholipids identify antecedent memory impairment in older adults. Nat Med 2014;20:415-18.
57. Ratnavalli E, Brayne C, Dawson K, et al. The prevalence of frontotemporal dementia. Neurology 2002;58:1615-21.
58. Gorno-Tempini ML, Hillis AE, Weintraub S, et al. Classification of primary progressive aphasia and its variants. Neurology 2011;76:1006-14.
59. Clark CM, Forman MS. Frontotemporal lobar degeneration with motor neuron disease: a clinical and pathological spectrum. Arch Neurol 2006;63:489-90.
60. Seelaar H, Rohrer JD, Pijnenburg YA, et al. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry 2011;82:476-86.
61. 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.
62. 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.
63. Grossman M. Primary progressive aphasia: clinicopathological correlations. Nat Rev Neurol 2010;6:88-97.
64. Gordon E, Rohrer JD, Kim LG, et al. Measuring disease progression in frontotemporal lobar degeneration: a clinical and MRI study. Neurology 2010;74:666-73.
65. Rohrer JD, Lashley T, Schott JM, et al. Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain 2011;134:2565-81.
66. Massey LA, Micallef C, Paviour DC, et al. Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Mov Disord 2012;27:1754-62.
67. Rankin KP, Mayo MC, Seeley WW, et al. Behavioral variant frontotemporal dementia with corticobasal degeneration pathology: phenotypic comparison to bvFTD with Pick's disease. J Mol Neurosci 2011;45:594-608.
68. Whitwell JL, Jack CR Jr, Boeve BF, et al. Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN. Neurology 2009;72:813-20.
69. Whitwell JL, Weigand SD, Boeve BF, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012;135:794-806.
70. Rohrer JD, Schott JM. Primary progressive aphasia: defining genetic and pathological subtypes. Curr Alzheimer Res 2011;8:266-72.
71. Riemenschneider M, Wagenpfeil S, Diehl J, et al. Tau and Abeta42 protein in CSF of patients with frontotemporal degeneration. Neurology 2002;58:1622-8.
72. Borroni B, Cerini C, Archetti S, et al. Cerebrospinal fluid tau in frontotemporal lobar degeneration: clinical, neuroimaging, and prognostic correlates. J Alzheimers Dis 2011;23:505-12.
73. Hu WT, Watts K, Grossman M, et al. Reduced CSF p-Tau181 to Tau ratio is a biomarker for FTLD-TDP. Neurology 2013;81:1945-52.
74. Whitwell JL, Josephs KA. Recent advances in the imaging of frontotemporal dementia. Curr Neurol Neurosci Rep 2012;12:715-23.
75. McMillan CT, Irwin DJ, Avants BB, et al. White matter imaging helps dissociate tau from TDP-43 in frontotemporal lobar degeneration. J Neurol Neurosurg Psychiatry 2013;84:949-55.
76. Zhou J, Greicius MD, Gennatas ED, et al. Divergent network connectivity changes in behavioural variant frontotemporal dementia and Alzheimer's disease. Brain 2010;133:1352-67.
77. Warren JD, Rohrer JD, Schott JM, et al. Molecular nexopathies: a new paradigm of neurodegenerative disease. Trends Neurosci 2013;36:561-9.
78. Steinacker P, Hendrich C, Sperfeld AD, et al. TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 2008;65:1481-7.
79. Kasai T, Tokuda T, Ishigami N, et al. Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis. Acta Neuropathol 2009;117:55-62.
80. Suarez-Calvet M, Dols-Icardo O, Llado A, et al. Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation. J Neurol Neurosurg Psychiatry 2014;85:684-91.
81. Schofield EC, Halliday GM, Kwok J, et al. Low serum progranulin predicts the presence of mutations: a prospective study. J Alzheimers Dis 2010;22:981-4.
82. Ghidoni R, Benussi L, Glionna M, et al. Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 2008;71:1235-9.
83. Sleegers K, Brouwers N, Van Damme P, et al. Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann Neurol 2009;65:603-9.
84. Scherling CS, Hall T, Berisha F, et al. Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degeneration. Ann Neurol 2014;75:116-26.
85. Landqvist Waldo M, Frizell Santillo A, Passant U, et al. Cerebrospinal fluid neurofilament light chain protein levels in subtypes of frontotemporal dementia. BMC Neurol 2013;13:54.
86. Miller ZA, Rankin KP, Graff-Radford NR, et al. TDP-43 frontotemporal lobar degeneration and autoimmune disease. J Neurol Neurosurg Psychiatry 2013;84:956-62.
87. Hales CM, Hu WT. From frontotemporal lobar degeneration pathology to frontotemporal lobar degeneration biomarkers. Int Rev Psychiatry 2013;25:210-20.
88. McKeith IG, Dickson DW, Lowe J, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 2005;65:1863-72.
89. Lippa CF, Duda JE, Grossman M, et al. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 2007;68:812-19.
90. Burton EJ, Karas G, Paling SM, et al. Patterns of cerebral atrophy in dementia with Lewy bodies using voxel-based morphometry. Neuroimage 2002;17:618-30.
91. Barber R, Ballard C, McKeith IG, et al. MRI volumetric study of dementia with Lewy bodies: a comparison with AD and vascular dementia. Neurology 2000;54:1304-9.
92. McKeith I, O'Brien J, Walker Z, et al. Sensitivity and specificity of dopamine transporter imaging with 123I-FP-CIT SPECT in dementia with Lewy bodies: a phase III, multicentre study. Lancet Neurol 2007;6:305-13.
93. Sinha N, Firbank M, O'Brien JT. Biomarkers in dementia with Lewy bodies: a review. Int J Geriatr Psychiatry 2012;27:443-53.
94. Gilman S, Koeppe RA, Little R, et al. Differentiation of Alzheimer's disease from dementia with Lewy bodies utilizing positron emission tomography with [18F] fluorodeoxyglucose and neuropsychological testing. Exp Neurol 2005;191(Suppl 1):S95-103.
95. Gomperts SN, Rentz DM, Moran E, et al. Imaging amyloid deposition in Lewy body diseases. Neurology 2008;71:903-10.
96. Cepek L, Steinacker P, Mollenhauer B, et al. Follow-up investigations of tau protein and S-100B levels in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Dement Geriatr Cogn Disord 2005;19:376-82.
97. Mollenhauer B, Cullen V, Kahn I, et al. Direct quantification of CSF alpha-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration. Exp Neurol 2008;213:315-25.
98. Spies PE, Melis RJ, Sjogren MJ, et al. Cerebrospinal fluid alpha-synuclein does not discriminate between dementia disorders. J Alzheimers Dis 2009;16:363-9.
99. Bibl M, Mollenhauer B, Lewczuk P, et al. Validation of amyloid-beta peptides in CSF diagnosis of neurodegenerative dementias. Mol Psychiatry 2007;12:671-80.
100. Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011;134:2456-77.