Down Syndrome: Genetic and Clinical Overlap with Dementia

Principles and Practice of Geriatric Psychiatry: Third Edition

Volumn , Issue , 2010, Pages 281-286

  Tan, Giles ^a   Murphy, Declan G M ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Alzheimer' disease; Alzheimer's disease; Amyloid; ApoE; Brain mapping; Computational anatomy; Cytokines; Dementia; Down syndrome; Magnetic resonance imaging; MCI; MRI; Myo inositol; Neuroimaging; Trisomy 21

Indexed keywords

EID: 84885742316     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470669600.ch48     Document Type: Chapter

References (78)

1. Wisniewski KE, Wisniewski HM, Wen GY. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol 1985; 17(3): 278-82.
2. Mann DM. The pathological association between Down syndrome and Alzheimer disease. Mech Ageing Dev 1988; 43(2): 99-136.
3. Margallo-Lana ML, Moore PB, Kay DWK et al. Fifteen-year follow-up of 92 hospitalized adults with Down's syndrome: incidence of cognitive decline, its relationship to age and neuropathology. J Intellect Disabil Res 2007; 51(6): 463-77.
4. Devenny DA, Silverman WP, Hill AL et al. Normal ageing in adults with Down's syndrome: a longitudinal study. J Intellect Disabil Res 1996; 40(3): 208-21.
5. Evenhuis HM. The natural history of dementia in Down's syndrome. Arch Neurol 1990; 47(3): 263-7.
6. Coppus A, Evenhuis H, Verberne, G-J et al. Dementia and mortality in persons with Down's syndrome. J Intellect Disabil Res 2006; 50(10): 768-77.
7. Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a populationbased study. Lancet 2002; 359(9311): 1019-25.
8. Baird PA, Sadovnick AD. Life expectancy in Down syndrome adults. Lancet 1988; 2(8624): 1354-6.
9. Coppus AM, Evenhuis HM, Verberne GJ. Survival in elderly persons with Down syndrome. J Am Geriatr Soc 2008; 56(12): 2311-16.
10. Schupf N, Sergievsky GH. Genetic and host factors for dementia in Down's syndrome. Br J Psychiatry 2002; 180: 405-10.
11. Zigman WB, Jenkins EC, Tycko B, Schupf N, Silverman W. Mortality is associated with apolipoprotein E epsilon4 in nondemented adults with Down syndrome. Neurosci Lett 2005; 390(2): 93-7.
12. Rumble B, Retallack R, Hilbich C et al. Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. N Engl J Med 1989; 320(22): 1446-52.
13. Wisniewski KE, Dalton AJ, McLachlan C, Wen GY, Wisniewski HM. Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology 1985; 35(7): 957-61.
14. Murphy GM, Jr, Eng LF, Ellis WG et al. Antigenic profile of plaques and neurofibrillary tangles in the amygdala in Down's syndrome: a comparison with Alzheimer's disease. Brain Res 1990; 537(1-2): 102-8.
15. Selkoe DJ. Normal and abnormal biology of the beta-amyloid precursor protein. Annu Rev Neurosci 1994; 17: 489-517.
16. Teller JK, Russo C, DeBusk LM et al. Presence of soluble amyloid beta-peptide precedes amyloid plaque formation in Down's syndrome. Nature Med 1996; 2(1): 93-5.
17. Mehta PD, Capone G, Jewell A, Freedland RL. Increased amyloid beta protein levels in children and adolescents with Down syndrome. J Neurol Sci 2007; 254(1-2): 22-7.
18. Mehta PD, Mehta SP, Fedor B et al. Plasma amyloid beta protein 1-42 levels are increased in old Down Syndrome but not in young Down Syndrome. Neurosci Lett 2003; 342(3): 155-8.
19. Schupf N, Patel B, Silverman W et al. Elevated plasma amyloid beta-peptide 1-42 and onset of dementia in adults with Down syndrome. Neurosci Lett 2001; 301(3): 199-203.
20. Jones EL, Hanney M, Francis PT, Ballard CG. Amyloid beta concentrations in older people with Down syndrome and dementia. Neurosci Lett 2009; 451(2): 162-4.
21. Margallo-Lana M, Morris CM, Gibson AM et al. Influence of the amyloid precursor protein locus on dementia in Down syndrome. Neurology 2004; 62(11): 1996-8.
22. Tyrrell J, Cosgrave M, McPherson J et al. Presenilin 1 and alpha-1-antichymotrypsin polymorphisms in Down syndrome: no effect on the presence of dementia. Am J Med Genet 1999; 88(6): 616-20.
23. Saunders AM, Strittmatter WJ, Schmechel D et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993; 43(8): 1467-72.
24. Corder EH, Saunders AM, Risch NJ et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet 1994; 7(2): 180-84.
25. Deb S, Braganza J, Norton N et al. APOE epsilon 4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome. Br J Psychiatry 2000; 176: 468-72.
26. Prasher VP, Sajith SG, Rees SD et al. Significant effect of APOE epsilon 4 genotype on the risk of dementia in Alzheimer's disease and mortality in persons with Down syndrome. Int J Geriatr Psychiatry 2008; 23(11): 1134-40.
27. Lai F, Kammann E, Rebeck GW et al. APOE genotype and gender effects on Alzheimer disease in 100 adults with Down syndrome. Neurology 1999; 53(2): 331-6.
28. Prasher VP, Chowdhury TA, Rowe BR et al. ApoE genotype and Alzheimer's disease in adults with Down syndrome: metaanalysis. Am J Ment Retard 1997; 102(2): 103-10.
29. Coppus AM, Evenhuis HM, Verberne GJ et al. The impact of apolipoprotein E on dementia in persons with Down's syndrome. Neurobiol Aging 2008; 29(6): 828-35.
30. Jones EL, Margallo-Lana M, Prasher VP, Ballard CG. The extended tau haplotype and the age of onset of dementia in Down syndrome. Dement Geriatr Cogn Disord 2008; 26(3): 199-202.
31. Kimura R, Kamino K, Yamamoto M et al. The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between beta-amyloid production and tau phosphorylation in Alzheimer disease. Hum Molec Genet 2007; 16(1): 15-23.
32. Craig MC, Maki PM, Murphy DG. The Women's Health Initiative Memory Study: findings and implications for treatment. Lancet Neurol 2005; 4(3): 190-94.
33. Visser FE, Aldenkamp AP, Van Huffelen AC et al. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard 1997; 101(4): 400-12.
34. Schupf N, Pang D, Patel BN et al. Onset of dementia is associated with age at menopause in women with Down's syndrome. Ann Neurol 2003; 54(4): 433-8.
35. Schupf N, Kapell D, Nightingale B et al. Earlier onset of Alzheimer's disease in men with Down syndrome. Neurology 1998; 50(4): 991-5.
36. Schup N, Winsten S, Patel B et al. Bioavailable estradiol and age at onset of Alzheimer's disease in postmenopausal women with Down syndrome. Neurosci Lett 2006; 406(3): 298-302.
37. Cosgrave MP, Tyrrell J, McCarron M, Gill M, Lawlor BA. Age at onset of dementia and age of menopause in women with Down's syndrome. J Intellect Disabil Res 1999; 43(5): 461-5.
38. McLaurin J, Franklin T, Chakrabartty A, Fraser PE. Phosphatidylinositol and inositol involvement in Alzheimer amyloid-beta fibril growth and arrest. J Mol Biol 1998; 278(1): 183-94.
39. Shonk T, Ross BD. Role of increased cerebral myo-inositol in the dementia of Down syndrome. Magn Reson Med 1995; 33(6): 858-61.
40. Huang W, Alexander GE, Daly EM et al. High brain myoinositol levels in the predementia phase of Alzheimer's disease in adults with Down's syndrome: a1 H MRS study. Am J Psychiatry 1999; 156(12): 1879-86.
41. Beacher F, Simmons A, Daly E et al. Hippocampal myo-inositol and cognitive ability in adults with Down syndrome: an in vivo proton magnetic resonance spectroscopy study. Arch Gen Psychiatry 2005; 62(12): 1360-65.
42. Lamar M, Foy CML, Beacher F et al. Dementia in Down's syndrome: a 1H-MRS comparison with Alzheimer's disease and mild cognitive impairment (under review).
43. Brugge KL, Nichols S, Delis D, Saitoh T, Truaner D. The role of alterations in free radical metabolism in mediating cognitive impairments in Down's syndrome. EXS 1992; 62: 190-98.
44. Bush A, Beail N. Risk factors for dementia in people with Down syndrome: issues in assessment and diagnosis. Am J Ment Retard 2004; 109(2): 83-97.
45. McGeer EG, McGeer PL. Brain inflammation in Alzheimer disease and the therapeutic implications. Curr Pharm Des 1999; 5(10): 821-36.
46. Carta MG, Serra P, Ghiani A et al. Chemokines and proinflammatory cytokines in Down's syndrome: an early marker for Alzheimer-type dementia? Psychother Psychosom 2002; 71(4): 233-6.
47. Licastro F, Chiappelli M, Ruscica M, Carnelli V, Corsi MM. Altered cytokine and acute phase response protein levels in the blood of children with Downs syndrome: relationship with dementia of Alzheimer's type. Int J Immunopathol Pharmacol 2005; 18(1): 165-72.
48. Kálmán J, Juhász A, Laird G et al. Serum interleukin-6 levels correlate with the severity of dementia in Down syndrome and in Alzheimer's disease. Acta Neurol Scand 1997; 96(4): 236-40.
49. Tan GMY, Nicholls S, Holmes C. Cytokine production and cognitive decline in people with Down's syndrome-a pilot study (under review).
50. Teipel SJ, Hampel H, Neuroanatomy of Down syndrome in vivo: a model of preclinical Alzheimer's disease. Behav Genet 2006; 36(3): 405-15.
51. Raz N, Torres IJ, Briggs SD et al. Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: evidence from MRI morphometry. Neurology 1995; 45(2): 356-66.
52. Pinter JD, Eliez S, Schmitt JE, Capone GT, Reiss AL. Neuroanatomy of Down's syndrome: a high-resolution MRI study. Am J Psychiatry 2001; 158(10): 1659-65.
53. Beacher F, Daly E, Simmons A et al. Brain anatomy and ageing in non-demented adults with Down's syndrome: an in vivo MRI study. Psychol Med 2010; 40(4): 611-19.
54. Beacher F, Daly E, Simmons A et al. Alzheimer's disease and Down's syndrome: an in vivo MRI study. Psychol Med 2009; 39(4): 675-84.
55. Stern Y, Gurland B, Tatemichi TK et al. Influence of education and occupation on the incidence of Alzheimer's disease. JAMA 1994; 271(13): 1004-10.
56. Temple V, Jozsvai E, Konstantareas MM, Hewitt TA. Alzheimer dementia in Down's syndrome: the relevance of cognitive ability. J Intellect Disabil Res 2001; 45(1): 47-55.
57. Oliver C, Crayton L, Holland A, Hall S, Bradbury J. A four year prospective study of age-related cognitive change in adults with Down's syndrome. Psychol Med 1998; 28(6): 1365-77.
58. Ball SL, Holland AJ, Hon J et al. Personality and behaviour changes mark the early stages of Alzheimer's disease in adults with Down's syndrome: findings from a prospective populationbased study. Int J Geriatr Psychiatry 2006; 21(7): 661-73.
59. Krinsky-McHale SJ, Devenny DA, Kittler P, Silverman W. Selective attention deficits associated with mild cognitive impairment and early stage Alzheimer's disease in adults with Down syndrome. Am J Ment Retard 2008; 113(5): 369-86.
60. McCarron M, Gill M, McCallion P, Begley C. Health comorbidities in ageing persons with Down syndrome and Alzheimer's dementia. J Intellect Disabil Res 2005; 49(7): 560-66.
61. Mantry D, Cooper S-A, Smiley E et al. The prevalence and incidence of mental ill-health in adults with Down syndrome. J Intellect Disabil Res 2008; 52(2): 141-55.
62. Prasher V, Hall W. Short-term prognosis of depression in adults with Down's syndrome: association with thyroid status and effects on adaptive behaviour. J Intellect Disabil Res 1996; 40(1): 32-8.
63. Haveman MJ, Maaskant MA, van Schrojenstein Lantman HM, Urlings HF, Kessels AG. Mental health problems in elderly people with and without Down's syndrome. J Intellect Disabil Res 1994; 38 (3): 341-55.
64. Cooper SA, Prasher V. Maladaptive behaviours and symptoms of dementia in adults with Down's syndrome compared with adults with intellectual disability of other aetiologies. J Intellect Disabil Res 1998; 42 (4): 293-300.
65. Urv TK, Zigman WB, Silverman W. Maladaptive behaviors related to dementia status in adults with Down syndrome. Am J Ment Retard 2008; 113(2): 73-86.
66. Adams D, Oliver C, Kalsy S et al. Behavioural characteristics associated with dementia assessment referrals in adults with Down syndrome. J Intellect Disabil Res 2008; 52(4): 358-68.
67. Nieuwenhuis-Mark RE. Diagnosing Alzheimer's dementia in Down syndrome: problems and possible solutions. Res Dev Disabil 2009; 30(5): 827-38.
68. Strydom A, Hassiotis A. Diagnostic instruments for dementia in older people with intellectual disability in clinical practice. Aging Ment Health 2003; 7(6): 431-7.
69. Evenhuis HM. Further evaluation of the Dementia Questionnaire for Persons with Mental Retardation (DMR). J Intellect Disabil Res 1996; 40(4): 369-73.
70. Ball SL, Holland AJ, Huppert FA et al. The modified CAMDEX informant interview is a valid and reliable tool for use in the diagnosis of dementia in adults with Down's syndrome. J Intellect Disabil Res 2004; 48(6): 611-20.
71. Strydom A, Livingston G, King M, Hassiotis A. Prevalence of dementia in intellectual disability using different diagnostic criteria. Br J Psychiatry 2007; 191: 150-57.
72. Prasher VP. Review of donepezil, rivastigmine, galantamine and memantine for the treatment of dementia in Alzheimer's disease in adults with Down syndrome: implications for the intellectual disability population. Int J Geriatr Psychiatry 2004; 19(6): 509-15.
73. Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009 Jan 21; (1): CD007178.
74. Mohan M, Bennett C, Carpenter PK. Galantamine for dementia in people with Down syndrome. Cochrane Database Syst Rev Jan 21; (1): CD007656.
75. Mohan M, Bennett C, Carpenter PK. Rivastigmine for dementia in people with Down syndrome. Cochrane Database Syst Rev Jan 21; (1): CD007658.
76. Mohan M, Bennett C, Carpenter PK. Memantine for dementia in people with Down syndrome. Cochrane Database Syst Rev Jan 21; (1): CD007657.
77. Prasher VP, Huxley A, Haque MS. A 24-week, double-blind, placebo-controlled trial of donepezil in patients with Down syndrome and Alzheimer's disease-pilot study. Int J Geriatr Psychiatry 2002; 17(3): 270-78.
78. Prasher VP, Adams C, Holder R. Long term safety and efficacy of donepezil in the treatment of dementia in Alzheimer's disease in adults with Down syndrome: open label study. Int J Geriatr Psychiatry 2003; 18(6): 549-51.