Genetics and Underlying Pathology of Dementia

Neuropsychology Review

Volumn 25, Issue 1, 2015, Pages 113-124

  Ferencz, Beata ^a   Gerritsen, Lotte ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Alzheimer s disease; Dementia; Frontotemporal lobar degeneration; Genetics; Lewy body dementia; Vascular dementia

Indexed keywords

AGING; DEMENTIA; GENETIC VARIABILITY; GENETICS; HUMAN; PATHOLOGY; SEXUAL DEVELOPMENT;

AGING; DEMENTIA; GENETIC VARIATION; GENETICS; HUMANS; SEX CHARACTERISTICS;

EID: 84929725219     PISSN: 10407308     EISSN: 15736660     Source Type: Journal    
DOI: 10.1007/s11065-014-9276-3     Document Type: Review

References (120)

1. Alam, R., Tripathi, M., Mansoori, N., Parveen, S., Luthra, K., Lakshmy, R., et al. (2014). Synergistic Epistasis of Paraoxonase 1 (rs662 and rs85460) and apolipoprotein E4 genes in pathogenesis of Alzheimer’s disease and vascular dementia. American Journal of Alzheimer’s Disease and Other Dementias. doi:10.1177/1533317514539541.
2. Altman, R., & Rutledge, J. C. (2010). The vascular contribution to Alzheimer’s disease. Clinical Science (London), 119(10), 407–421. doi:10.1042/cs20100094.
3. Baig, S., Joseph, S. A., Tayler, H., Abraham, R., Owen, M. J., Williams, J., et al. (2010). Distribution and expression of picalm in Alzheimer disease. Journal of Neuropathology and Experimental Neurology, 69(10), 1071–1077. doi:10.1097/NEN.0b013e3181f52e01.
4. Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., et al. (2006). Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature, 442(7105), 916–919. doi:10.1038/nature05016.
5. Bates, K. A., Verdile, G., Li, Q. X., Ames, D., Hudson, P., Masters, C. L., et al. (2009). Clearance mechanisms of Alzheimer’s amyloid-beta peptide: implications for therapeutic design and diagnostic tests. Molecular Psychiatry, 14(5), 469–486. doi:10.1038/mp.2008.96.
6. Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., et al. (2014). Genome-wide association meta-analysis of neuropathologic features of Alzheimer’s disease and related dementias. PLoS Genetics, 10(9), e1004606. doi:10.1371/journal.pgen.1004606.
7. Bergem, A. L., Engedal, K., & Kringlen, E. (1997). The role of heredity in late-onset Alzheimer disease and vascular dementia. A twin study. Archives of General Psychiatry, 54(3), 264–270.
8. Bogaerts, V., Engelborghs, S., Kumar-Singh, S., Goossens, D., Pickut, B., van der Zee, J., et al. (2007). A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder. Brain, 130(Pt 9), 2277–2291. doi:10.1093/brain/awm167.
9. Borroni, B., Grassi, M., Costanzi, C., Archetti, S., Caimi, L., & Padovani, A. (2006). APOE genotype and cholesterol levels in lewy body dementia and Alzheimer disease: investigating genotype-phenotype effect on disease risk. The American Journal of Geriatric Psychiatry, 14(12), 1022–1031. doi:10.1097/01.jgp.0000225088.29353.08.
10. Bostrom, F., Jonsson, L., Minthon, L., & Londos, E. (2007). Patients with Lewy body dementia use more resources than those with Alzheimer’s disease. International Journal of Geriatric Psychiatry, 22(8), 713–719. doi:10.1002/gps.1738.
11. Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., et al. (2014). Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies. Human Molecular Genetics. doi:10.1093/hmg/ddu334.
12. Chapman, J., Wang, N., Treves, T. A., Korczyn, A. D., & Bornstein, N. M. (1998). ACE, MTHFR, factor V Leiden, and APOE polymorphisms in patients with vascular and Alzheimer’s dementia. Stroke, 29(7), 1401–1404.
13. Clark, L. N., Kartsaklis, L. A., Wolf Gilbert, R., Dorado, B., Ross, B. M., Kisselev, S., et al. (2009). Association of glucocerebrosidase mutations with dementia with lewy bodies. Archives of Neurology, 66(5), 578–583. doi:10.1001/archneurol.2009.54.
14. Colom-Cadena, M., Gelpi, E., Charif, S., Belbin, O., Blesa, R., Marti, M. J., et al. (2013). Confluence of alpha-synuclein, tau, and beta-amyloid pathologies in dementia with Lewy bodies. Journal of Neuropathology and Experimental Neurology, 72(12), 1203–1212. doi:10.1097/nen.0000000000000018.
15. Cook, L. J., Ho, L. W., Taylor, A. E., Brayne, C., Evans, J. G., Xuereb, J., et al. (2004). Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer’s disease. Neuroscience Letters, 358(2), 142–146. doi:10.1016/j.neulet.2004.01.016.
16. Deelen, J., Beekman, M., Uh, H. W., Broer, L., Ayers, K. L., Tan, Q., et al. (2014). Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. Human Molecular Genetics, 23(16), 4420–4432. doi:10.1093/hmg/ddu139.
17. DeMattos, R. B., O’Dell, M. A., Parsadanian, M., Taylor, J. W., Harmony, J. A., Bales, K. R., et al. (2002). Clusterin promotes amyloid plaque formation and is critical for neuritic toxicity in a mouse model of Alzheimer’s disease. Proceedings of the National Academy of Sciences of the United States of America, 99(16), 10843–10848. doi:10.1073/pnas.162228299.
18. DeMattos, R. B., Cirrito, J. R., Parsadanian, M., May, P. C., O’Dell, M. A., Taylor, J. W., et al. (2004). ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. Neuron, 41(2), 193–202.
19. Dementia Report United Kingdom (2007). London.
20. Devenney, E., Hornberger, M., Irish, M., Mioshi, E., Burrell, J., Tan, R., et al. (2014). Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. JAMA Neurology, 71(3), 331–339. doi:10.1001/jamaneurol.2013.6002.
21. Federico, A., Bianchi, S., & Dotti, M. T. (2005). The spectrum of mutations for CADASIL diagnosis. Neurological Science, 26(2), 117–124. doi:10.1007/s10072-005-0444-3.
22. Federico, A., Di Donato, I., Bianchi, S., Di Palma, C., Taglia, I., & Dotti, M. T. (2012). Hereditary cerebral small vessel diseases: a review. Journal of Neurological Sciences, 322(1–2), 25–30. doi:10.1016/j.jns.2012.07.041.
23. Ferencz, B., Karlsson, S., & Kalpouzos, G. (2012). Promising genetic biomarkers of preclinical Alzheimer’s disease: the influence of APOE and TOMM40 on brain integrity. International Journal of Alzheimer’s Disease, 2012, 421452. doi:10.1155/2012/421452.
24. Ferrari, R., Hardy, J., & Momeni, P. (2011). Frontotemporal dementia: from Mendelian genetics towards genome wide association studies. Journal of Molecular Neuroscience, 45(3), 500–515. doi:10.1007/s12031-011-9635-y.
25. Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B., et al. (2014). Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurology, 13(7), 686–699. doi:10.1016/s1474-4422(14)70065-1.
26. Fuchs, J., Nilsson, C., Kachergus, J., Munz, M., Larsson, E. M., Schule, B., et al. (2007). Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology, 68(12), 916–922. doi:10.1212/01.wnl.0000254458.17630.c5.
27. Gatz, M., Reynolds, C. A., Finkel, D., Pedersen, N. L., & Walters, E. (2010). Dementia in Swedish twins: predicting incident cases. Behavior Genetics, 40(6), 768–775. doi:10.1007/s10519-010-9407-4.
28. Genin, E., Hannequin, D., Wallon, D., Sleegers, K., Hiltunen, M., Combarros, O., et al. (2011). APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Molecular Psychiatry, 16(9), 903–907. doi:10.1038/mp.2011.52.
29. George, J. M. (2002). The synucleins. Genome Biology, 3(1). REVIEWS3002.
30. Gijselinck, I., Van Langenhove, T., van der Zee, J., Sleegers, K., Philtjens, S., Kleinberger, G., et al. (2012). A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurology, 11(1), 54–65. doi:10.1016/s1474-4422(11)70261-7.
31. Glenner, G. G., & Wong, C. W. (1984). Alzheimer’s disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochemical and Biophysical Research Communications, 120(3), 885–890.
32. Gudala, K., Bansal, D., & Muthyala, H. (2013). Role of serum cholesterol in Parkinson’s disease: a meta-analysis of evidence. Journal of Parkinsons Disease, 3(3), 363–370. doi:10.3233/jpd-130196.
33. Gusareva, E. S., Carrasquillo, M. M., Bellenguez, C., Cuyvers, E., Colon, S., Graff-Radford, N. R., et al. (2014). Genome-wide association interaction analysis for Alzheimer’s disease. Neurobiology of Aging. doi:10.1016/j.neurobiolaging.2014.05.014.
34. Hanson, J. C., & Lippa, C. F. (2009). Lewy body dementia. International Review of Neurobiology, 84, 215–228. doi:10.1016/s0074-7742(09)00411-5.
35. Hardy, J., Guerreiro, R., & Lovestone, S. (2011). Clusterin as an Alzheimer biomarker. Archives of Neurology, 68(11), 1459–1460. doi:10.1001/archneurol.2011.1000.
36. Harel, A., Wu, F., Mattson, M. P., Morris, C. M., & Yao, P. J. (2008). Evidence for CALM in directing VAMP2 trafficking. Traffic, 9(3), 417–429. doi:10.1111/j.1600-0854.2007.00694.x.
37. Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., et al. (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nature Genetics, 41(10), 1088–1093. doi:10.1038/ng.440.
38. Hely, M. A., Reid, W. G., Adena, M. A., Halliday, G. M., & Morris, J. G. (2008). The Sydney multicenter study of Parkinson’s disease: the inevitability of dementia at 20 years. Movement Disorders, 23(6), 837–844. doi:10.1002/mds.21956.
39. Hollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J. C., Carrasquillo, M. M., et al. (2011). Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nature Genetics, 43(5), 429–435. doi:10.1038/ng.803.
40. Jones, L., Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., et al. (2010). Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer’s disease. PLoS One, 5(11), e13950. doi:10.1371/journal.pone.0013950.
41. Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., et al. (2012). A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline. Nature, 488(7409), 96–99. doi:10.1038/nature11283.
42. Kara, E., Kiely, A. P., Proukakis, C., Giffin, N., Love, S., Hehir, J., et al. (2014). 6.4 Mb duplication of the alpha-Synuclein Locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurology. doi:10.1001/jamaneurol.2014.994.
43. Karageorgiou, E., & Miller, B. L. (2014). Frontotemporal lobar degeneration: a clinical approach. Seminars in Neurology, 34(2), 189–201. doi:10.1055/s-0034-1381735.
44. Karch, C. M., & Goate, A. M. (2014). Alzheimer’s disease risk genes and mechanisms of disease pathogenesis. Biological Psychiatry. doi:10.1016/j.biopsych.2014.05.006.
45. Karch, C. M., Jeng, A. T., Nowotny, P., Cady, J., Cruchaga, C., & Goate, A. M. (2012). Expression of novel Alzheimer’s disease risk genes in control and Alzheimer’s disease brains. PLoS One, 7(11), e50976. doi:10.1371/journal.pone.0050976.
46. Karch, C. M., Cruchaga, C., & Goate, A. M. (2014). Alzheimer’s disease genetics: from the bench to the clinic. Neuron, 83(1), 11–26. doi:10.1016/j.neuron.2014.05.041.
47. Kehagia, A. A., Barker, R. A., & Robbins, T. W. (2010). Neuropsychological and clinical heterogeneity of cognitive impairment and dementia in patients with Parkinson’s disease. Lancet Neurology, 9(12), 1200–1213. doi:10.1016/s1474-4422(10)70212-x.
48. Kehoe, P. G., Russ, C., McIlory, S., Williams, H., Holmans, P., Holmes, C., et al. (1999). Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease. Nature Genetics, 21(1), 71–72. doi:10.1038/5009.
49. Khera, R., & Das, N. (2009). Complement receptor 1: disease associations and therapeutic implications. Molecular Immunology, 46(5), 761–772. doi:10.1016/j.molimm.2008.09.026.
50. Kim, M., Suh, J., Romano, D., Truong, M. H., Mullin, K., Hooli, B., et al. (2009a). Potential late-onset Alzheimer’s disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity. Human Molecular Genetics, 18(20), 3987–3996. doi:10.1093/hmg/ddp323.
51. Kim, Y., Park, J., & Lee, C. (2009b). Multilocus genotypic association with vascular dementia by multifactor dimensionality reduction and entropy-based estimation. Psychiatric Genetics, 19(5), 253–258. doi:10.1097/YPG.0b013e32832ceebd.
52. Kim, Y., Kong, M., & Lee, C. (2013). Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia. World Journal of Biological Psychiatry, 14(3), 220–226. doi:10.3109/15622975.2011.559272.
53. Kirshner, H. S. (2014). Frontotemporal dementia and primary progressive aphasia, a review. Neuropsychiatric Disease and Treatment, 10, 1045–1055. doi:10.2147/ndt.s38821.
54. Kong, M., Kim, Y., & Lee, C. (2011). A strong synergistic epistasis between FAM134B and TNFRSF19 on the susceptibility to vascular dementia. Psychiatric Genetics, 21(1), 37–41. doi:10.1097/YPG.0b013e3283413496.
55. Lambert, J. C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., et al. (2009). Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer’s disease. Nature Genetics, 41(10), 1094–1099. doi:10.1038/ng.439.
56. Lambert, J. C., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013). Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nature Genetics, 45(12), 1452–1458. doi:10.1038/ng.2802.
57. Lathe, R., Sapronova, A., & Kotelevtsev, Y. (2014). Atherosclerosis and Alzheimer - diseases with a common cause? Inflammation, oxysterols, vasculature. BMC Geriatrics, 14, 36. doi:10.1186/1471-2318-14-36.
58. Le Ber, I. (2013). Genetics of frontotemporal lobar degeneration: an up-date and diagnosis algorithm. Revue Neurologique (Paris), 169(10), 811–819. doi:10.1016/j.neurol.2013.07.014.
59. Leduc, V., Jasmin-Belanger, S., & Poirier, J. (2010). APOE and cholesterol homeostasis in Alzheimer’s disease. Trends in Molecular Medicine, 16(10), 469–477. doi:10.1016/j.molmed.2010.07.008.
60. Lee, C., & Kim, Y. (2013). Complex genetic susceptibility to vascular dementia and an evidence for its underlying genetic factors associated with memory and associative learning. Gene, 516(1), 152–157. doi:10.1016/j.gene.2012.12.032.
61. Li, Y., Grupe, A., Rowland, C., Nowotny, P., Kauwe, J. S., Smemo, S., et al. (2006). DAPK1 variants are associated with Alzheimer’s disease and allele-specific expression. Human Molecular Genetics, 15(17), 2560–2568. doi:10.1093/hmg/ddl178.
62. Li, K., Liu, S., Yao, S., Wang, B., Dai, D., & Yao, L. (2009). Interaction between interleukin-8 and methylenetetrahydrofolate reductase genes modulates Alzheimer’s disease risk. Dementia and Geriatric Cognitive Disorders, 27(3), 286–291. doi:10.1159/000204766.
63. Linnertz, C., Lutz, M. W., Ervin, J. F., Allen, J., Miller, N. R., Welsh-Bohmer, K. A., et al. (2014). The genetic contributions of SNCA and LRRK2 genes to Lewy body pathology in Alzheimer’s disease. Human Molecular Genetics. doi:10.1093/hmg/ddu196.
64. Magaki, S., Yong, W. H., Khanlou, N., Tung, S., & Vinters, H. V. (2014). Comorbidity in dementia: update of an ongoing autopsy study. Journal of the American Geriatrics Society. doi:10.1111/jgs.12977.
65. Maia, L. F., Mackenzie, I. R., & Feldman, H. H. (2007). Clinical phenotypes of cerebral amyloid angiopathy. Journal of Neurological Sciences, 257(1–2), 23–30. doi:10.1016/j.jns.2007.01.054.
66. Mata, I. F., Samii, A., Schneer, S. H., Roberts, J. W., Griffith, A., Leis, B. C., et al. (2008). Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Archives of Neurology, 65(3), 379–382. doi:10.1001/archneurol.2007.68.
67. McGeer, E. G., & McGeer, P. L. (2001). Innate immunity in Alzheimer’s disease: a model for local inflammatory reactions. Molecular Interventions, 1(1), 22–29.
68. McKeith, I. G., Galasko, D., Kosaka, K., Perry, E. K., Dickson, D. W., Hansen, L. A., et al. (1996). Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology, 47(5), 1113–1124.
69. Meeus, B., Theuns, J., & Van Broeckhoven, C. (2012). The genetics of dementia with Lewy bodies: what are we missing? Archives of Neurology, 69(9), 1113–1118. doi:10.1001/archneurol.2011.3678.
70. Miklya, I., Pencz, N., Hafenscher, F., & Goltl, P. (2014). The role of alpha-synuclein in Parkinson’s disease. Neuropsychopharmacologia Hungarica, 16(2), 77–84.
71. Mollenhauer, B., Forstl, H., Deuschl, G., Storch, A., Oertel, W., & Trenkwalder, C. (2010). Lewy body and Parkinsonian dementia: common, but often misdiagnosed conditions. Deutsches Ärzteblatt International, 107(39), 684–691. doi:10.3238/arztebl.2010.0684.
72. Momeni, P., Rogaeva, E., Van Deerlin, V., Yuan, W., Grafman, J., Tierney, M., et al. (2006). Genetic variability in CHMP2B and frontotemporal dementia. Neurodegenerative Diseases, 3(3), 129–133. doi:10.1159/000094771.
73. Moore, S. F., & Barker, R. A. (2014). Predictors of Parkinson’s disease dementia: towards targeted therapies for a heterogeneous disease. Parkinsonism & Related Disorders, 20(Suppl 1), S104–S107. doi:10.1016/s1353-8020(13)70026-9.
74. Naj, A. C., Jun, G., Beecham, G. W., Wang, L. S., Vardarajan, B. N., Buros, J., et al. (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nature Genetics, 43(5), 436–441. doi:10.1038/ng.801.
75. Nervi, A., Reitz, C., Tang, M. X., Santana, V., Piriz, A., Reyes, D., et al. (2011). Familial aggregation of dementia with Lewy bodies. Archives of Neurology, 68(1), 90–93. doi:10.1001/archneurol.2010.319.
76. Nishioka, K., Wider, C., Vilarino-Guell, C., Soto-Ortolaza, A. I., Lincoln, S. J., Kachergus, J. M., et al. (2010). Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease. Archives of Neurology, 67(8), 970–975. doi:10.1001/archneurol.2010.177.
77. Nuutinen, T., Suuronen, T., Kauppinen, A., & Salminen, A. (2009). Clusterin: a forgotten player in Alzheimer’s disease. Brain Research Reviews, 61(2), 89–104. doi:10.1016/j.brainresrev.2009.05.007.
78. Oesterhus, R., Soennesyn, H., Rongve, A., Ballard, C., Aarsland, D., & Vossius, C. (2014). Long-term mortality in a cohort of home-dwelling elderly with mild Alzheimer’s disease and Lewy body dementia. Dementia and Geriatric Cognitive Disorders, 38(3–4), 161–169. doi:10.1159/000358051.
79. Olesen, O. F., Mikkelsen, J. D., Gerdes, C., & Jensen, P. H. (1997). Isoform-specific binding of human apolipoprotein E to the non-amyloid beta component of Alzheimer’s disease amyloid. Brain Research. Molecular Brain Research, 44(1), 105–112.
80. Pant, S., Sharma, M., Patel, K., Caplan, S., Carr, C. M., & Grant, B. D. (2009). AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling. Nature Cell Biology, 11(12), 1399–1410. doi:10.1038/ncb1986.
81. Pericak-Vance, M. A., Bebout, J. L., Gaskell, P. C., Jr., Yamaoka, L. H., Hung, W. Y., Alberts, M. J., et al. (1991). Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. American Journal of Human Genetics, 48(6), 1034–1050.
82. Pohjasvaara, T., Mantyla, R., Ylikoski, R., Kaste, M., & Erkinjuntti, T. (2003). Clinical features of MRI-defined subcortical vascular disease. Alzheimer Disease & Associated Disorders, 17(4), 236–242.
83. Prince, M., Bryce, R., Albanese, E., Wimo, A., Ribeiro, W., & Ferri, C. P. (2013). The global prevalence of dementia: a systematic review and metaanalysis. Alzheimer’s & Dementia, 9(1), 63–75. doi:10.1016/j.jalz.2012.11.007. e62.
84. Qiu, C., von Strauss, E., Backman, L., Winblad, B., & Fratiglioni, L. (2013). Twenty-year changes in dementia occurrence suggest decreasing incidence in central Stockholm, Sweden. Neurology, 80(20), 1888–1894. doi:10.1212/WNL.0b013e318292a2f9.
85. Reitz, C. (2013). Dyslipidemia and the risk of Alzheimer’s disease. Current Atherosclerosis Reports, 15(3), 307. doi:10.1007/s11883-012-0307-3.
86. Reitz, C., Tang, M. X., Luchsinger, J., & Mayeux, R. (2004). Relation of plasma lipids to Alzheimer disease and vascular dementia. Archives of Neurology, 61(5), 705–714. doi:10.1001/archneur.61.5.705.
87. Ridge, P. G., Mukherjee, S., Crane, P. K., & Kauwe, J. S. (2013). Alzheimer’s disease: analyzing the missing heritability. PLoS One, 8(11), e79771. doi:10.1371/journal.pone.0079771.
88. Ridolfi, E., Barone, C., Scarpini, E., & Galimberti, D. (2013). The role of the innate immune system in Alzheimer’s disease and frontotemporal lobar degeneration: an eye on microglia. Clinical and Developmental Immunology, 2013, 939786. doi:10.1155/2013/939786.
89. Rogaeva, E., Meng, Y., Lee, J. H., Gu, Y., Kawarai, T., Zou, F., et al. (2007). The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature Genetics, 39(2), 168–177. doi:10.1038/ng1943.
90. Rogers, J., Li, R., Mastroeni, D., Grover, A., Leonard, B., Ahern, G., et al. (2006). Peripheral clearance of amyloid beta peptide by complement C3-dependent adherence to erythrocytes. Neurobiology of Aging, 27(12), 1733–1739. doi:10.1016/j.neurobiolaging.2005.09.043.
91. Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., et al. (2009). The heritability and genetics of frontotemporal lobar degeneration. Neurology, 73(18), 1451–1456. doi:10.1212/WNL.0b013e3181bf997a.
92. Roman, G. C., Tatemichi, T. K., Erkinjuntti, T., Cummings, J. L., Masdeu, J. C., Garcia, J. H., et al. (1993). Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology, 43(2), 250–260.
93. Rosenthal, S. L., & Kamboh, M. I. (2014). Late-onset Alzheimer’s disease genes and the potentially implicated pathways. Current Genetics Medicine Reports, 2, 85–101. doi:10.1007/s40142-014-0034-x.
94. Roses, A. D., Lutz, M. W., Amrine-Madsen, H., Saunders, A. M., Crenshaw, D. G., Sundseth, S. S., et al. (2010). A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer’s disease. The Pharmacogenomics Journal, 10(5), 375–384. doi:10.1038/tpj.2009.69.
95. Savica, R., Grossardt, B. R., Bower, J. H., Boeve, B. F., Ahlskog, J. E., & Rocca, W. A. (2013). Incidence of dementia with Lewy bodies and Parkinson disease dementia. JAMA Neurology, 70(11), 1396–1402. doi:10.1001/jamaneurol.2013.3579.
96. Schjeide, B. M., Schnack, C., Lambert, J. C., Lill, C. M., Kirchheiner, J., Tumani, H., et al. (2011). The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels. Archives of General Psychiatry, 68(2), 207–213. doi:10.1001/archgenpsychiatry.2010.196.
97. Schmidt, H., Freudenberger, P., Seiler, S., & Schmidt, R. (2012). Genetics of subcortical vascular dementia. Experimental Gerontology, 47(11), 873–877. doi:10.1016/j.exger.2012.06.003.
98. Schrijvers, E. M., Schurmann, B., Koudstaal, P. J., van den Bussche, H., Van Duijn, C. M., Hentschel, F., et al. (2012). Genome-wide association study of vascular dementia. Stroke, 43(2), 315–319. doi:10.1161/strokeaha.111.628768.
99. Seshadri, S., Fitzpatrick, A. L., Ikram, M. A., DeStefano, A. L., Gudnason, V., Boada, M., et al. (2010). Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA, 303(18), 1832–1840. doi:10.1001/jama.2010.574.
100. Seto-Salvia, N., Clarimon, J., Pagonabarraga, J., Pascual-Sedano, B., Campolongo, A., Combarros, O., et al. (2011). Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes. Archives of Neurology, 68(3), 359–364. doi:10.1001/archneurol.2011.17.
101. Sieben, A., Van Langenhove, T., Engelborghs, S., Martin, J. J., Boon, P., Cras, P., et al. (2012). The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathologica, 124(3), 353–372. doi:10.1007/s00401-012-1029-x.
102. Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., et al. (2005). Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nature Genetics, 37(8), 806–808. doi:10.1038/ng1609.
103. Spillantini, M. G., & Goedert, M. (2013). Tau pathology and neurodegeneration. Lancet Neurology, 12(6), 609–622. doi:10.1016/s1474-4422(13)70090-5.
104. Takei, N., Miyashita, A., Tsukie, T., Arai, H., Asada, T., Imagawa, M., et al. (2009). Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics, 93(5), 441–448. doi:10.1016/j.ygeno.2009.01.003.
105. Tang, W., Huang, Q., Yao, Y. Y., Wang, Y., Wu, Y. L., & Wang, Z. Y. (2014). Does CSF p-tau help to discriminate Alzheimer’s disease from other dementias and mild cognitive impairment? A meta-analysis of the literature. Journal of Neural Transmission. doi:10.1007/s00702-014-1226-y.
106. Trougakos, I. P., & Gonos, E. S. (2006). Regulation of clusterin/apolipoprotein J, a functional homologue to the small heat shock proteins, by oxidative stress in ageing and age-related diseases. Free Radical Research, 40(12), 1324–1334. doi:10.1080/10715760600902310.
107. Tsuang, D., Leverenz, J. B., Lopez, O. L., Hamilton, R. L., Bennett, D. A., Schneider, J. A., et al. (2012). GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology, 79(19), 1944–1950. doi:10.1212/WNL.0b013e3182735e9a.
108. Urwin, H., Authier, A., Nielsen, J. E., Metcalf, D., Powell, C., Froud, K., et al. (2010). Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Human Molecular Genetics, 19(11), 2228–2238. doi:10.1093/hmg/ddq100.
109. Van Deerlin, V. M., Sleiman, P. M., Martinez-Lage, M., Chen-Plotkin, A., Wang, L. S., Graff-Radford, N. R., et al. (2010). Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature Genetics, 42(3), 234–239. doi:10.1038/ng.536.
110. van der Flier, W. M., & Scheltens, P. (2005). Epidemiology and risk factors of dementia. Journal of Neurology, Neurosurgery, and Psychiatry, 76(Suppl 5), v2–v7. doi:10.1136/jnnp.2005.082867.
111. van der Zee, J., Gijselinck, I., Dillen, L., Van Langenhove, T., Theuns, J., Engelborghs, S., et al. (2013). A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Human Mutation, 34(2), 363–373. doi:10.1002/humu.22244.
112. van Swieten, J., & Spillantini, M. G. (2007). Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathology, 17(1), 63–73. doi:10.1111/j.1750-3639.2007.00052.x.
113. Wang, T., Baron, M., & Trump, D. (2008). An overview of Notch3 function in vascular smooth muscle cells. Progress in Biophysics and Molecular Biology, 96(1–3), 499–509. doi:10.1016/j.pbiomolbio.2007.07.006.
114. Wang, C. S., Burke, J. R., Steffens, D. C., Hulette, C. M., Breitner, J. C., & Plassman, B. L. (2009). Twin pairs discordant for neuropathologically confirmed Lewy body dementia. Journal of Neurology, Neurosurgery, and Psychiatry, 80(5), 562–565. doi:10.1136/jnnp.2008.151654.
115. Weihl, C. C., Temiz, P., Miller, S. E., Watts, G., Smith, C., Forman, M., et al. (2008). TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. Journal of Neurology, Neurosurgery, and Psychiatry, 79(10), 1186–1189. doi:10.1136/jnnp.2007.131334.
116. Wider, C., Ross, O. A., Nishioka, K., Heckman, M. G., Vilarino-Guell, C., Jasinska-Myga, B., et al. (2012). An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer’s and Lewy body pathology. Journal of Neurology, Neurosurgery, and Psychiatry, 83(4), 424–429. doi:10.1136/jnnp-2011-301413.
117. Williams-Gray, C. H., Mason, S. L., Evans, J. R., Foltynie, T., Brayne, C., Robbins, T. W., et al. (2013). The CamPaIGN study of Parkinson’s disease: 10-year outlook in an incident population-based cohort. Journal of Neurology, Neurosurgery, and Psychiatry, 84(11), 1258–1264. doi:10.1136/jnnp-2013-305277.
118. Winslow, A. R., Moussaud, S., Zhu, L., Post, K. L., Dickson, D. W., Berezovska, O., et al. (2014). Convergence of pathology in dementia with Lewy bodies and Alzheimer’s disease: a role for the novel interaction of alpha-synuclein and presenilin 1 in disease. Brain, 137(Pt 7), 1958–1970. doi:10.1093/brain/awu119.
119. Yang, C., Swallows, C. L., Zhang, C., Lu, J., Xiao, H., Brady, R. O., et al. (2014). Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones. Proceedings of the National Academy of Sciences of the United States of America, 111(1), 249–254. doi:10.1073/pnas.1321341111.
120. Zhu, X., Babar, A., Siedlak, S. L., Yang, Q., Ito, G., Iwatsubo, T., et al. (2006). LRRK2 in Parkinson’s disease and dementia with Lewy bodies. Molecular Neurodegeneration, 1, 17. doi:10.1186/1750-1326-1-17.