Magnetic resonance image characterization of early onset Alzheimer disease associated to E280A-PS1 mutation. Case-control study: Findings in the magnetic resonance image;Caracterizacion imagenologica de la enfermedad de Alzheimer asociada a la mutacion E280A-PS1. Estudio caso-control: Hallazgos en la resonancia magnetica

Revista de Neurologia

Volumn 29, Issue 1, 1999, Pages 6-12

  Lopera, F ^a   Tobon N ^a   Arcos Burgos, M ^a   Vargas, S ^b   Gutierrez J E ^b   Rosselli, M ^c   Ardila, A ^d  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b Hospital Universitario San Vicente de Paul   (Colombia)

^c FLORIDA ATLANTIC UNIVERSITY   (United States)

^d Miami Institute of Psychology   (United States)

Author keywords

Alzheimer disease; Antioquia; Colombia; Dementia; Early onset Alzheimer disease; Genetics; Magnetic resonance image; Presenilin 1

Indexed keywords

ADULT; ALZHEIMER DISEASE; ARTICLE; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; HETEROZYGOTE; HIPPOCAMPUS; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; ATROPHY; BRAIN VENTRICLE; CASE CONTROL STUDY; COLOMBIA; DEMENTIA; DIFFERENTIAL DIAGNOSIS; DOMINANT GENE; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; MIDDLE AGED; PATHOLOGY; POINT MUTATION;

MEMBRANE PROTEIN; NERVE PROTEIN; PRESENILIN 1; PSEN1 PROTEIN, HUMAN;

AGE OF ONSET; ALZHEIMER DISEASE; ATROPHY; CASE-CONTROL STUDIES; CEREBRAL VENTRICLES; COLOMBIA; DEMENTIA; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HIPPOCAMPUS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; NERVE TISSUE PROTEINS; POINT MUTATION; PRESENILIN-1; SEVERITY OF ILLNESS INDEX;

EID: 0033161583     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.2901.99136     Document Type: Article

References (75)

1. Bick KL. The early story of Alzheimer disease. In Terry RD, Katzman R, Bick KL, eds. Alzheimer disease. New York: Raven Press; 1994. p. 1-8.
2. Chang-Chui H, Lee-Teng E, Henderson VW, Moy AC. Clinical subtypes of dementia of the Alzheimer's type. Neurology 1985; 35: 1544-50.
3. Cummings BJ, Eike SJ, Shanle R. Beta-amyloid deposition and other measures of neuropathology predict cognitive status in Alzheimer's Disease. Neurobiol Aging 1996; 17: 921-33.
4. Schellenberg GD. Progress in Alzheimer's Disease genetics. Curr Opin Neurol 1995; 8: 262-7.
5. Hendriks L, van Dijn CM, Cras P, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nat Genet 1992; 1: 218-21.
6. Goate A, Chartier-Harlin MM, et al. Segregation of missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349: 704-6.
7. Murrell J, Farlow M, Ghetti B, Benson MD. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991; 254: 97-9.
8. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a novel gene baring missense mutations in early onset familial Alzheimer's disease. Nature 1995; 375: 754-60.
9. Barton AJ, Cerok BW, Karran EH, et al. Alteration in brain presenilin 1 MRN. A expression in early onset familial Alzheimer's disease. Neurodegeneration 1996; 5: 213-8.
10. Haltia M, Viitanen M, Sulkava R, et al. Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description. Ann Neurol 1994; 36: 362-7.
11. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995; 269: 973-7.
12. Bird TD, Levy Lahad E, Poorkaj P, et al. Wide range in age of onset for chromosome 1-related familial Alzheimer's disease. Ann Neurol 1996; 40: 932-6.
13. Sandbrink R, Hartmann T, Masters CL, et al. Genes contributing to Alzheimer's disease. Mol Psychiatry 1996; 1: 27-40.
14. Lendon CL, Martínez A, Berhens MI, et al. The E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles. Hum Mutat 1997; 10: 186-95.
15. Staufenbiel M, Pombo-Villar E. Predisposición genética a la enfermedad de Alzheimer. Acta Neurol Colomb 1996; 12: 26-32.
16. Cornejo W, Lopera F, Uribe C, et al. Descripción de una familia con demencia presenil tipo Alzheimer. Acta Méd Colomb 1987; 12: 55-61.
17. Lopera F, Arcos M, Madrigal L, et al. Demencia tipo Alzheimer con agregación familiar en Antioquia, Colombia. Acta Neurol Colomb 1994; 2: 173-87.
18. Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995; 11: 219-22.
19. Lemere C, Lopera F, Kosik K, et al. The E280A presenilin-1 Alzheimer mutation produces increased Ab42 deposition and severe cerebellar pathology. Nat Med 1996; 2: 1146-50.
20. Lopera F, Ardila A, Martínez A, et al. Clinical features of early-onset Alzheimer's disease in a large kindred with an E280A presenilin 1 mutation. JAMA 1997; 277: 793-9.
21. Gerard G, Wersberg LA. MRI periventricular lesions in adults. Neurology 1986; 36: 998-1001.
22. Harrell LE, Callaway R, Chandra Sekar B. Magnetic resonance imaging and the diagnosis of dementia. Neurology 1987; 37: 540-3.
23. Kertesz A, Black SE, Tokar G, Benke T, Carr T, Nicholson L. Periventricular and subcortical hyperintensities on magnetic resonance imaging: 'rims, caps and unidentified bright objects'. Arch Neurol 1988; 45: 404-8.
24. Coffey CE, Wilkinson WE, Parashos IA, et al. Quantitative cerebral anatomy of the ageing human brain: a cross-sectional study using magnetic resonance imaging. Neurology 1992; 42: 527-36.
25. Tupler LA, Coffey CE, Logue PE, Djang WT, Fagan SM. Neuropsychological importance of subcortical white matter hyperintensity. Arch Neurol 1992; 49: 1248-52.
26. Johnson A, Davis R, Buonanno FS, Brady J, et al. Comparison of magnetic resonance and roentgen ray computed tomography in dementia. Arch Neurol 1987; 44: 1075-80.
27. Hughes CP, Gado M. Computed tomography and aging of the brain. Radiology 1981; 139: 391-6.
28. Gado M, Patel J, Hughes CP, Danziger WL, Berg L. Brain atrophy in dementia judged by CT scan ranking. Am J Neuroradiol 1983; 4: 499-500.
29. Scheltensph P, Leys D, Barkhot F, Holo D, Weinstein HC, Vermersch P, et al. Atrophy of the medial temporal lobes on MRI in probable Alzheimer's disease and normal ageing: diagnostic value and neuropsychological correlates. J Neurol Neurosurg Psychiatry 1992; 55: 967-72.
30. De Leon MJ, George AE, Stylopoulus LA, et al. Early marker for Alzheimer's disease: the atrophic hippocampus. Lancet 1989: ii: 672-3.
31. George AE, de Leon MJ, Stylopoulus LA, et al. CT diagnostic features of Alzheimer disease: importance of the choroidal/hippocampal fissure complex. [Abstract]. Am J Neuroradiol 1990; 11: 101-7.
32. Jack CR Jr, Petersen RC, O'Brien PC, et al. MR-based hippocampal volumetry in the diagnosis of Alzheimer's disease. Neurology 1992; 42: 183-8.
33. Kesslak JP, Nalcioglu O, Cotman CW. Quantification of magnetic resonance scans for hippocampal and parahippocampal atrophy in Alzheimer's disease. Neurology 1991; 41: 51-4.
34. Killiany RJ, Moss MB, Albert MS, et al. Temporal lobe regions on magnetic resonance imaging identify patients with early Alzheimer's disease. Arch Neurol 1993; 50: 949-54.
35. Frisoni GB, Beltramello A, Weiss C, Geraldi C, Bianchetti A, Trabucchi M. Linear measures of atrophy in mild Alzheimer's disease. [Abstract]. Am J Neuroradiol 1996; 17: 913-23.
36. De Leon MJ, Golomb J, George AE, et al. The radiologic prediction of Alzheimer's disease: the atrophic hippocampal formation. [Abstract]. Am J Neuroradiol 1993; 14: 897-906.
37. Kaye JA, Swihart T, Howieson D, Darne A, et al. Volume loss of the hippocampus and temporal lobe in healthy elderly persons destined to develop dementia. Neurology 1997; 48: 1297-304.
38. Fox NC, Warrington EK, Stevens JM, Rossor MN. Atrophy of the hippocampal formation in early familial Alzheimer's disease. [Abstract]. Ann N Y Acad Sci 1996; 17; 226-32.
39. Ikeda M, Tanabe H, Nakagawa Y, Kazui H, Yamazaki H, Harada K, et al. MRI-based quantitative assessment of the hippocampal region in very mild to moderate Alzheimer's disease. [Abstract]. Neuroradiology 1994; 36: 7-10.
40. Murphy DG, de Carli CD, Daly E, Gillette JA, McIntosh AR, Haxby JV, et al. Volumetric magnetic resonance imaging in men with dementia of the Alzheimer type: correlations with disease severity. [Abstract]. Biol Psychiatry 1993; 34: 612-21.
41. Rusinek H, de Leon MS, George AE, et al. Alzheimer's disease: measuring loss of cerebral gray matter with MR imaging. Radiology 1991; 178: 109-14.
42. Fox NC, Freeborough PS, Rossor MN. Visualization and qualification of rates of atrophy in Alzheimer's disease. Lancet 1996; 348: 94-7.
43. De Leon MJ, George AE. Computed tomography in aging and senile dementia of the Alzheimer's type. In Mayeux R, Rosen WG, eds. Advances in neurology. The Dementias. Vol. 38. New York: Raven Press; 1983.
44. Killiany RJ, Moss MB, Albert MS, Sandor T, Tieman J, Jolesz F. Temporal lobe regions on magnetic resonance imaging identify patients with early Alzheimer's disease. Arch Neurol 1993; 50: 949-54.
45. Petersen RC, Jack CR Jr, Smith GE, Kokmen E, Tangalos EG, Ivhik RJ. Serial magnetic resonance-based hippocampal volumes in Alzheimer's disease and normal aging. Ann Neurol 1993; 34: 292.
46. Drayer BP, Heyman A, Wilkinson W, et al. Early onset Alzheimer's disease: an analysis of CT findings. Ann Neurol 1985; 17: 407-10.
47. Leys D, Soetaerts G, Petit H, Fauquetle A, Provo JP, Sterling M. Periventricular and white matter magnetic resonance imaging hyperintensities do not differ between en Alzheimer's disease and normal aging. Arch Neurol 1990: 47: 524-7.
48. Mirsen TR, Lee DH, Wong CJ, Díaz JF, Fox AJ, Hachinski VC. Clinical correlates of white matter changes on magnetic resonance imaging scans of the brain. Arch Neurol 1991; 48: 1015-21.
49. Drayer BP. Imaging of the aging brain. Part I. Normal findings. Radiology 1988; 166: 785-96.
50. Erkinjuntti T, Gao F, Lee DH, Eliasziw M, Merskey H, Hachinski VC. Lack of difference in brain hyperintensities between patients with early Alzheimer's disease and control subjects. Arch Neurol 1994; 51: 260-8.
51. Wahlund LO. Brain imaging and vascular dementia. Dementia 1994; 5: 193-6.
52. Erkinjutti T, Hachinski VC. Rethinking vascular dementia. Cerebrovasc Dis 1993; 3: 3-23.
53. Marder K, Richards M, Bello J, Bell K, Sano M, Miller L, et al. Clinical correlates of Alzheimer's disease with and without silent radiographic abnormalities. Arch Neurol 1995; 52: 146-51.
54. Chimowitz JB, Awad IA, Furhan AJ. Periventricular lesions on MRI. Facts and theories. Stroke 1989; 20: 963-7.
55. Díaz JF, Merskey H, Hachinski VC, et al. Improve recognition of leukoaraiosis and cognitive impairment in Alzheimer's disease. Arch Neurol 1991; 48: 1022-5.
56. Erkinjuntti T, Sulkava R. Brain imaging and diagnosis of dementia. In Coltfries CG, Levy R, Clincke G, Tritsmans L, eds. Diagnostic and therapeutic assessments in Alzheimer's disease. Petersfield: Wrightson Biomedical Publishing; 1991.
57. Scheltens P, Barkhof F, Valk J, Algra PR, et al. White matter lesions on magnetic resonance imaging in clinically diagnosed Alzheimer's disease. Evidence for heterogeneity. Brain 1992; 115: 735-48.
58. Wahlund LO, Basun H, Almkvist O, Andersson-Lundman G, Julin P, Saaf J. White matter hyperintensities in dementia: does in matter? [Abstract]. Magn Reson Imaging 1994; 12: 387-94.
59. Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, García JH, et al. Vascular dementia: diagnostic criteria for research studies; report of the NINCDS-ADRA International Workshop. Neurology 1993; 43: 250-60.
60. Drayer BP. Imaging of the aging brain II. Pathologic conditions. Radiology 1988; 166: 797-806.
61. Bartzokis G, Sultzer D, Mintz J, Holt LE, Marx P, Phelan CK, et al. In vivo evaluation of brain iron in Alzheimer's disease and normal subjects using MRI. Biol Psychiatry 1994; 35: 480-7.
62. Esiri MM, Wilcock GK. Cerebral amyloid angiopathy in dementia and old age. J Neurol Neurosurgery Psychiatry 1986; 49: 1221-6.
63. Markesbery WR, Ehmann WD, Hossain TIM, et al. Instrumental neutron activation analysis of brain aluminium in Alzheimer's disease and aging. Ann Neurol 1981; 10: 511-6.
64. McKhann G, Drachman D, Folstein M, Katzman R, Price DL, Stadlan EM. Clinical diagnosis of Alzheimer's disease: a report of the NINCD-S-ADRDA work group. Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34: 939-44.
65. Dahlbeck SW, McCluney KW, Yeakley SW, et al. The interuncal distance: a new MR measurement for the hippocampal atrophy of Alzheimer disease. Am J Neuroradiol 1991; 12: 931-2.
66. Early B, Escalona PR, Bayko OB, et al. Interuncal distance measurements in healthy volunteers and in patients with Alzheimer's disease. [Abstract]. Am J Neuroradiol 1993; 14: 907-10.
67. Howieson J, Kaye JA, Holm L, Howieson D. Interuncal distance: marker of aging and Alzheimer disease. [Abstract]. Am J Neuroradiol 1993; 14: 647-50.
68. Poraiswamy PM, McDonald WM, Patterson L, et al. Interuncal distance as a measure of hippocampal atrophy: normative data on axial MR. [Abstract]. Am J Neuroradiol 1993; 14: 141-3.
69. De Leon MJ, Golomb J, George AE, et al. The radiologic prediction of Alzheimer's disease: the atrophic hippocampal formation. Am J Neuroradiol 1993; 14: 887-906.
70. De Leon MJ, Convit A, Golomb J, et al. The hippocampus in aging and Alzheimer disease. Neuroimag Clin North Am 1995; 5: 1-17.
71. Fox NC, Freeborough PS, Rossor MN. Visualisation and qualification of rates of atrophy in Alzheimer's disease. Lancet 1996; 348: 94-7.
72. Jack C, Peterson R, O'Brien P, Tangalos E. MR based hippocampal volumetry in the diagnosis of Alzheimer's. Neurology 1992; 42: 183-8.
73. Kesslak J, Nalcioglu O, Cotman C. Quantification of magnetic resonance scans for hippocampal and parahippocampal atrophy. Neurology 1991; 41: 51-4.
74. George AE, de Leon MS, Stylopoulos LA, et al. CT diagnostic features of Alzheimer disease: importance of the choroidal-hippocampal fissure complex. [Abstract]. Am J Neuroradiol 1990; 11: 101-7.
75. De Leon MJ, George AE, Reisberg B, et al. Alzheimer's Disease: longitudinal CT studies of ventricular change. [Abstract]. Am J Neuroradiol 1989; 10: 371-2.