Genetic factors for cerebral amyloid angiopathy

Brain and Nerve

Volumn 60, Issue 11, 2008, Pages 1275-1283

  Hamaguchi, Tsuyoshi ^a   Yamada, Masahito ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

Alzheimer disease; Amyloid protein; Cerebral amyloid angiopathy; Gene

Indexed keywords

ALPHA 1 ANTICHYMOTRYPSIN; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; AMYLOID PROTEIN; CYSTATIN C; GELSOLIN; MEMBRANE METALLOENDOPEPTIDASE; PREALBUMIN; PRESENILIN 1; PRION PROTEIN; TRANSFORMING GROWTH FACTOR BETA1;

ALZHEIMER DISEASE; ARTICLE; BRAIN HEMORRHAGE; DEMENTIA; DOWN SYNDROME; GENE MUTATION; GENETIC POLYMORPHISM; HEREDITY; HUMAN; MISSENSE MUTATION; STROKE; VASCULAR AMYLOIDOSIS;

ALLELES; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; APOLIPOPROTEINS E; CEREBRAL AMYLOID ANGIOPATHY; CYSTATIN C; GELSOLIN; HUMANS; MUTATION; POLYMORPHISM, GENETIC; PREALBUMIN; PRESENILINS; RISK FACTORS;

EID: 57349168767     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (74)

1. Yamada M: Cerebral amyloid angiopathy: clinicopathological features with molecular basis. Adv Clin Neurosci 12: 193-217, 2002
2. Itoh Y, Yamada M: Cerebral amyloid angiopathy in the elderly: the clinicopathological features, pathogenesis, and risk factors. J Med Dent Sci 44: 11-19, 1997
3. Yamada M, Tsukagoshi H, Otomo E, Hayakawa M: Cerebral amyloid angiopathy in the aged. J Neurol 234: 371-376, 1987
4. Ellis RJ, Olichney JM, Thai LJ, Mirra SS, Morris JC, et al: Cerebral amyloid angiopathy in the brains of patients with Alzheimer's disease: The CERAD experience, part XV. Neurology 46: 1592-1596, 1996
5. Itoh Y, Yamada M, Hayakawa M, Otomo E, Miyatake T: Cerebral amyloid angiopathy: a significant cause of cerebellar as well as lober cerebral hemorrhage in the elderly. J Neurol Sci 116: 135-141, 1993
6. Gray F, Dubas F, Roullet E, Escourolle R: Leukoencephalopathy in diffuse hemorrhagic cerebral amyloid angiopathy. Ann Neurol 18: 54-59, 1985
7. Yamada M, Itoh Y, Shintaku M, Kawamura J, Jensson O, et al: Immune reactions associated with cerebral amyloid angiopathy. Stroke 27: 1155-1162, 1996
8. Walker DA, Broderick DF, Kotsenas AL, Rubino FA: Routin use of gradient-echo MRI to screen for cerebral amyloid angiopathy in elderly patients. AJNR Am J Roentgenol 182: 1547-1550, 2004
9. Johnson KA, Gregas M, Becker JA, Kinnecom C, Salat DH, et al: Imaging of amyloid burden and distribution in cerebral amyloid angiopathy. Ann Neurol 62: 229-234, 2007
10. Greenberg SM, Rebeck GW, Vonsattel JP, Gomez-Isla T, Hyman BT: Apolipoprotein E ε4 and cerebral hemorrhage associated with amyloid angiopathy. Ann Neurol 38: 254-259, 1995
11. Premkumar DR, Cohen DL, Hedera P, Friedland RP, Kalaria RN: Apolipoprotein E-ε4 in cerebral amyloid angiopathy and cerebrovascular pathology associated with Alzheimer's disease. Am J Pathol 148: 2083-2095, 1996
12. Zarow C, Zaias B, Lyness SA, Chui H: Cerebral amyloid angiopathy in Alzheimer disease is associated with apolipoprotein E4 and cortical neuronal loss. Alzheimer Dis Assoc Disord 13: 1-8, 1999
13. Nicoll JA, Burnett C, Love S, Graham DL, Dewar D, et al: High frequency of apolipoprotein E ε2 allele in hemorrhage due to cerebral amyloid angiopathy. Ann Neurol 41: 716-721, 1997
14. McCarron MO, Nicoll JA: High frequency of apolipoprotein E ε2 allele is specific for patients with cerebral amyloid angiopathy-related haemorrhage. Neurosci Lett 247: 45-48, 1998
15. McCarron MO, Nicoll JA, Ironside JW, Love S, Alberts MJ, et al: Cerebral amyloid angiopathy-related hemorrhage. Interaction of APOE ε2 with putative clinical risk factors. Stroke 30: 1643-1646, 1999
16. O'Donnell HC, Rosand J, Knudsen KA, Furie KL, Segal AZ, et al: Apolipoprotein E genotype and the risk of recurrent lobar intracerebral hemorrhage. N Engl J Med 342: 240-245, 2000
17. Yamada M, Itoh Y, Suematsu N, Matsushita M, Otomo E: Lack of the association between apolipoprotein E and cerebral amyloid angiopathy in the elderly Japanese. Ann Neurol 39: 683, 1996
18. Itoh Y, Yamada M, Suematsu N, Matsushita M, Otomo E: Influence of apolipoprotein E genotype on cerebral amyloid angiopathy in the elderly. Stroke 27: 216-218, 1996
19. Yamada M: Risk factors for cerebral amyloid angiopathy in the elderly. Ann NY Acad Sci U S A 977: 37-44, 2002
20. Yamada M, Sodeyama N, Itoh Y, Suematsu N, Otomo E, et al: Association of presenilin-1 polymorphism with cerebral amyloid angiopathy in the elderly. Stroke 28: 2219-2221, 1997
21. Yamada M, Sodeyama N, Itoh Y, Suematsu N, Otomo E, et al: Association of α1-antichymotrypsin polymorphism with cerebral amyloid angiopathy. Ann Neurol 44: 129-131, 1998
22. Yamada M, Sodeyama N, Itoh Y, Suematsu N, Otomo E, et al: Butyrylcholinesterase K variant and cerebral amyloid angiopathy. Stroke 29: 2488-2490, 1998
23. 2-macroglobulin gene and cerebral amyloid angiopathy. Stroke 30: 2277-2279, 1999
24. Yamada M, Sodeyama N, Itoh Y, Otomo E, Matsushita M, et al: No association of paraoxonase genotype or atherosclerosis with cerebral amyloid angiopathy. Stroke 33: 896-900, 2002
25. Yamada M, Sodeyama N, Itoh Y, Takahashi A, Otomo E, et al: Association of neprilysin polymorphism with cerebral amyloid angiopathy. J Neurol Neurosurg Psychiatry 74: 749-751, 2003
26. Hamaguchi T, Okino S, Sodeyama N, Itoh Y, Takahashi A, et al: Association of a polymorphism of the transforming growth factor-β1 gene with cerebral amyloid angiopathy. J Neurol Neurosurg Psychiatry 76: 696-699, 2005
27. Peila R, Yucesoy B, White LR, Johnson V, Kashon ML, et al: A TGF-β1 polymorphism association with dementia and neuropathologies: The HAAS. Neurobiol Aging 28: 1367-1373, 2007
28. Levy E, Carman MD, Fernandez-Madrid IJ, Power MD, Lieberbrug I, et al: Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 248: 1124-1126, 1990
29. Wattendorff AR, Bots GT, Went LN, Endtz LJ: Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage. J Neurol Sci 55: 121-135, 1982
30. Rozemuller AJ, Roos RA, Bots GT, Kamphorst W, Eikelenboom P, et al: Distribution of β/A 4 protein and amyloid precursor protein in hereditary cerebral hemorrhage with amyloidosis-Dutch type and Alzheimer's disease. Am J Pathol 142: 1449-1457, 1993
31. Wattendorff AR, Frangione B, Luyendijk W, Bots GT: Hereditary cerebral haemorrhage with amyloidosis, Dutch type (HCHWA-D): clinicopathological studies. J Neurol Neurosurg Psychiatry 58: 699-705, 1995
32. Natté R, Maat-Schieman ML, Haan J, Bornebroek M, Roos RA, et al: Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles. Ann Neurol 50: 765-772, 2001
33. Bugiani O, Padovani A, Magoni M, Andora G, Sgarzi M, et al: An Italian type of HCHWA. Neurobiol Aging 19: S 238, 1998
34. Nilsberth C, Westlind-Danielsson A, Eckman CB, Condron MM, Axelman K, et al: The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Aβ protofibril formation. Nat Neurosci 4: 887-893, 2001
35. Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, et al: Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 β-amyloid precursor protein gene. Nat Genet 1: 218-221, 1992
36. Cras P, van Harskamp F, Hendriks L, Ceuterick C, van Duijn CM, et al: Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692 Ala → GIy mutation. Acta Neuropathol 96: 253-260, 1998
37. Grabowski TJ, Cho HS, Vonsattel JP, Rebeck GW, Greenberg SM: Novel amyloid precursor protein mutation in an Iowa family with dementia and sever cerebral amyloid angiopathy. Ann Neurol 49: 697-705, 2001
38. Farzan M, Schnitzler CE, Vasilieva N, Leung D, Choe H: BACE2, a beta-secretase homolog, cleaves at the beta site and within the amyloid-beta region of the amyloid-beta precursor protein. Proc Natl Acad Sci U S A 97: 9712-9717, 2000
39. Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, et al: APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38: 24-26, 2006
40. Cabrejo L, Guyant-Maréchal L, Laquerriére A, Vercelletto M, De la Fournière F, et al: Phenotype associated with APP duplication in five families. Brain 129: 2966-2976, 2006
41. Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, et al: APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129: 2977-2983, 2006
42. Rovelet-Lecrux A, Frebourg T, Tuominen H, Majumaa K, Campion D, et al: APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. J Neurol Neurosurg Psychiatry 78:1158-1159, 2007
43. De Strooper B: Loss-of-function presenilin mutations in Alzheimer disease. EMBO Rep 8: 141-146, 2007
44. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, et al: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760, 1995
45. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, et al: Candidate gene for the chromosome 1 familial Alzeheimer's disease locus. Science 269: 973-977, 1995
46. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, et al: Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzeheimer's disease type 3 gene. Nature 376: 775-778, 1995
47. Dermaut B, Kumar-Singh S, De Jonghe C, Cruts M, Lofgren A, et al: Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. Brain 124: 2383-2392, 2001
48. 141 I). Ann Neurol 43: 131-135, 1998
49. Donahue JE, Khurana JS, Adelman LS: Intracerebral hemorrhage in two patients with Down's synedrome and cerebral amyloid angiopathy. Acta Neuropathol 95: 213-216, 1998
50. Jensson O, Gudmundsson G, Arnason A, Blöndal H, Petursdottir I, et al: Hereditary cystatin C (γ-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. Acta Neurol Scand 76: 102-114, 1987
51. Levy E, Lopez-Otin C, Ghiso J, Geltner D, Frangione B: Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cystatine proteases. J Exp Med 169: 1771-1778, 1989
52. Grubb A, Jensson O, Gudmundsson G, Arnason A, Löfberg H, et al: Abnormal metabolism of γ-trace alkaline microprotein. N Engl J Med 311: 1547-1549, 1984
53. Graffagnino C, Herbstreith MH, Schmechel DE, Levy E, Roses AD, et al: Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. Stroke 26: 2190-2193, 1995
54. McCarron MO, Nicoll JA, Stewart J, Ironside JW, Mann DM, et al: Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage. Neurology 54: 242-244, 2000
55. Benson MD: Leptomeningeal amyloid and variant transthyretins. Am J Pathol 148: 351-354, 1996
56. Kametani F, Ikeda S, Yanagisawa N, Ishi T, Hanyu N: Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type 1 familial amyloid polyneuropathy. J Neurol Sci 108: 178-183, 1992
57. Goren H, Steinberg MC, Farboody GH: Familial oculoleptomeningeal amyloidosis. Brain 103: 473-495, 1980
58. Uitti RJ, Donat JR, Rozdilsky B, Schneider RJ, Koeppen AH: Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features. Arch Neurol 45: 1118-1122, 1988
59. Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, et al: Meningovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTR D18G). Am J Pathol 148: 361-366, 1996
60. Herrick MK, DeBruvne K, Horoupian DS, Skare J, Vanefsky MA, et al: Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Neurology 47: 988-992, 1996
61. Petersen RB, Goren H, Cohen M, Richardson SL, Tresser N, et al: Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol 41: 307-313, 1997
62. Brett M, Persev MR, Reilly MM, Revesz T, Booth DR, et al: Transthyretin Leu 12 Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain 122: 183-190, 1999
63. Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, et al: Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology 60: 1625-1630, 2003
64. Yamashita T, Ando Y, Ueda M, Nakamura M, Okamoto S, et al: Effect of liver transplantation on transthyretin Tyr114Cys-related cerebral amyloid angiopathy. Neurology 70: 123-128, 2008
65. Kiuru S, Salonen O, Haltia M: Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol 45: 305-311, 1999
66. Maury CP, Sletten K, Totty N, Kangas H, Liljeström M: Amyloid fibril formation in gelsolin-derived amyloidosis. Definition of amyloidogenic region and evidence of accelerated amyloid formation of mutant Asn-187 and Tyr-187 gelsolin peptides. Lab Invest 70: 558-564, 1994
67. Ghiso J, Haltia M, Prelli F, Novello J, Frangione B: Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. Biochem J 272: 827-830, 1990
68. Plant GT, Révész T, Barnard RO, Harding AE, Gautier-Smith PC: Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation. Brain 113: 721-747, 1990
69. Ghetti B, Piccardo P, Spillantini MG, Ichimiya Y, Porro M, et al: Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: The phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci U S A 93: 744-748, 1996
70. Griffiths RA, Mortimer TF, Oppenhimer DR, Spalding JM: Congophilic angiopathy of the brain: a clinical and pathological report on two siblings. J Neurol Neurosurg Psychiatry 45: 396-408, 1982
71. Mead S, James-Galton M, Rébész T, Doshi RB, Harwood G, et al: Familial British dementia with amyloid angiopathy. Early clinical, neuropsycological and imaging findings. Brain 123: 975-991, 2000
72. Vidal R, Frangione B, Rostagno A, Mead S, Révész T, et al: A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 399: 776-781, 1999
73. Vidal R, Révész T, Rostagno A, Kim E, Holton JL, et al: A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. Proc Natl Acad Sci U S A 97: 4920-4925, 2000
74. Holton JL, Lashley T, Ghiso J, Braendgaard H, Vidal R, et al: Familial Danish Dementia: a novel form of cerebral amyloidosis associated with deposition of both Amyloid-Dan and Amyloid-beta. J Neuropathol Exp Neurol 61: 254-267, 2002