Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 2, 2013, Pages 154-162

  Lee, Grace J ^a   Lu, Po H ^a   Medina, Luis D ^a   Rodriguez Agudelo, Yaneth ^b   Melchor, Stephanie ^a   Coppola, Giovanni ^a   Braskie, Meredith N ^a   Hua, Xue ^a   Apostolova, Liana G ^a   Leow, Alex D ^a,c   Thompson, Paul M ^a   Ringman, John M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALZHEIMER DISEASE; AMNESIA; ARTICLE; BRAIN; BRAIN SIZE; BRAIN VENTRICLE; CAUDATE NUCLEUS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DEMENTIA; FAMILIAL DISEASE; FEMALE; FRONTAL LOBE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MILD COGNITIVE IMPAIRMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PARIETAL LOBE; PONS; PRIORITY JOURNAL; PUTAMEN; SPLENIUM; SYMPTOM; TEMPORAL LOBE; THALAMUS;

EID: 84872675568     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2011-302087     Document Type: Article

References (50)

1. Petersen RC, Smith GE, Waring SC, et al. Mild cognitive impairment: clinical characterization and outcome. Arch Neurol 1999;56:303-8.
2. Bruscoli M, Lovestone S. Is MCI really just early dementia? A systematic review of conversion studies. Int Psychogeriatrics 2004;16:129-40.
3. Lampe TH, Bird TD, Nochlin D, et al. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol 1994;36:368-78.
4. Verkkoniemi A, Somer M, Rinne JO, et al. Variant Alzheimer's disease with spastic paraparesis: clinical characterization. Neurology 2000;54:1103-9.
5. Verkkoniemi A, Kalimo H, Paetau A, et al. Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 2001;60:483-92.
6. Ringman JM, Gylys KH, Medina LD, et al. Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neurosci Lett 2011;487:287-92.
7. Ridha BH, Barnes J, Bartlett JW, et al. Tracking atrophy progression in familial Alzheimer's disease: a serial MRI study. Lancet Neurol 2006;5:828-34.
8. Fox NC, Crum WR, Scahill RI, et al. Imaging of onset and progression of Alzheimer's disease with voxel-compression mapping of serial magnetic resonance images. Lancet 2001;358:201-5. doi: 10.1016/S0140-6736(01)05408-3
9. Scahill RI, Schott JM, Stevens JM, et al. Mapping the evolution of regional atrophy in Alzheimer's disease: unbiased analysis of fluid-registered serial MRI. Proc Nat Acad Sci USA 2002;99:4135-7.
10. Apostolova LG, Hwang KS, Medina LD, et al. Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease. Dement Geriatr Cogn Disord 2011;32:118-25.
11. Hua X, Leow AD, Parikshak N, et al. Tensor-based morphometry as a neuroimaging biomarker for Alzheimer's disease: an MRI study of 676 AD, MCI, and normal subjects. NeuroImage 2008;43:458-69.
12. Lu PH, Thompson PM, Leow A, et al. Apolipoprotein E genotype is associated with temporal and hippocampal atrophy rates in healthy elderly adults: a tensor-based morphometry study. J Alzheimers Dis 2011;23:433-42.
13. Morris JC. The Clinical Dementia Rating (CDR): current version and scoring rules. Neurology 1993;43:2412-14.
14. Folstein MF, Folstein SE, McHugh PR. 'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-98.
15. Murrell J, Ghetti B, Cochran E, et al. The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics 2006;7:277-9.
16. Artiola-i-Fortuny L, Hermosillo D, Heaton RK, et al. Manual de Normas y Procedimientos para la Bateria Neuropsicologica en Espanol. Tucson, AZ: m Press, 1999.
17. Rey A. L'examen clinique en psychologie. Paris, France: Presses Universitaires de France, 1964.
18. Wechsler D. Wechsler adult intelligence scale, revised: manual. San Antonio: Psychological Corporation, 1987.
19. Stroop J. Studies of interference in serial verbal reactions. J Exp Psychol 1935;18:643-62.
20. D'Elia LF, Satz P, Uchiyama CL, et al. Color trails test: professional manual. Odessa, FL: Psychological Assessment Resources, 1996.
21. Goodglass H, Kaplan E. The assessment of aphasia and related disorders. 2nd edn. Philadelphia: Lea & Febiger, 1983.
22. Mungas D, Reed BR, Crane PK, et al. Spanish and English Neuropsychological Assessment Scales (SENAS): further development and psychometric characteristics. Psychol Assess 2004;16:347-59.
23. Heaton RK, Chelune GJ, Talley JL, et al. Wisconsin Card Sorting Test Manual: Revised and Expanded. Odessa, FL: Psychological Assessment Resources, 1993.
24. Vogel A, Stokholm J, Gade A, et al. Awareness of deficits in mild cognitive impairment and Alzheimer's disease: do MCI patients have impaired insight? Dement Geriatr Cogn Disord 2004;17:181-7.
25. Ringman JM, O'Neill J, Geschwind D, et al. Diffusion tensor imaging in preclinical and presymptomatic carriers of familial Alzheimer's disease mutations. Brain 2007;130:1767-76.
26. Shattuck DW, Leahy RM. BrainSuite: an automated cortical surface identification tool. Med Image Anal 2002;6:129-42.
27. Sled JG, Zijdenbos AP, Evans AC. A nonparametric method for automatic correction of intensity nonuniformity in MRI data. IEEE Trans Med Imaging 1998;17:87-97.
28. Mazziotta J, Toga A, Evans A, et al. A probabilistic atlas and reference system for the human brain: International Consortium for Brain Mapping (ICBM). Philos Trans R Soc Lond B Biol Sci 2001;356:1293-322.
29. Leow A, Huang SC, Geng A, et al. Inverse consistent mapping in 3D deformable image registration: its construction and statistical properties. Inf Process Med Imaging 2005;19:493-503.
30. Chiang MC, Reiss AL, Lee AD, et al. 3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry. Neuroimage 2007;36:1096-109.
31. Lopera F, Ardilla A, Martinez A, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997;277:793-9.
32. Klunk WE, Price JC, Mathis CA, et al. Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. J Neurosci 2007;27:6174-84.
33. Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J Neurol 2006;253:139-58.
34. Remes AM, Laru L, Tuominen H, et al. Carbon 11-labeled Pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplication. Arch Neurol 2008;65:540-4.
35. Klunk WE, Engler H, Nordberg A, et al. Imaging brain amyloid in Alzheimer's disease with Pittsburgh compound-B. Ann Neurol 2004;55:306-19.
36. Thal DR, Rub U, Orantes M, et al. Phases of A beta-deposition in the human brain and its relevance for the development of AD. Neurology 2002;58:1791-800.
37. Haglund M, Sjobeck M, Englund E. Locus ceruleus degeneration is ubiquitous in Alzheimer's disease: possible implications for diagnosis and treatment. Neuropathology 2006;26:528-32.
38. Rub U, Schultz C, Del Tredici K, et al. Early involvement of the tegmentopontine reticular nucleus during the evolution of Alzheimer's disease-related cytoskeletal pathology. Brain Res 2001;908:107-12.
39. Fortea J, Sala-Llonch R, Bartres-Faz D, et al. Increased cortical thickness and caudate volume precede atrophy in PSEN1 mutation carriers. J Alzheimers Dis 2010;22:909-22.
40. Chetelat G, Villemagne VL, Pike KE, et al. Larger temporal volume in elderly with high versus low beta-amyloid deposition. Brain 2010;133:3349-58.
41. Takao M, Ghetti B, Hayakawa I, et al. A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and Parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol 2002;104:155-70.
42. Brun A, Englund E. A white matter disorder in dementia of the Alzheimer type: a pathoanatomical study. AnnNeurol 1986;19:253-62.
43. Bartzokis G. Alzheimer's disease as homeostatic responses to age-related myelin breakdown. Neurobiol Aging 2011;32:1341-71.
44. Scola E, Bozzali M, Agosta F, et al. A diffusion tensor MRI study of patients with MCI and AD with a 2-year clinical follow-up. J Neurol, Neurosurg Psychiatry 2010;81:798-805.
45. Tabert MH, Albert SM, Borukhova-Milov L, et al. Functional deficits in patients with mild cognitive impairment: prediction of AD. Neurology 2002;58:758-64.
46. Crowe M, Andel R, Wadley V, et al. Subjective cognitive function and decline among older adults with psychometrically defined amnestic MCI. Int J Geriatr Psychiatry 2006;21:1187-92.
47. Lippa CF, Swearer JM, Kane KJ, et al. Familial Alzheimer's disease: site of mutation influences clinical phenotype. Ann Neurol. 2000;48:376-9.
48. Ashburner J, Friston KJ. Unified segmentation. NeuroImage 2005;26:839-51.
49. Bateman RJ, Aisen PS, De Strooper B, et al. Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease. Alzheimers Res Ther 2011;3:1.
50. Ryan NS, Rossor MN. Correlating familial Alzheimer's disease gene mutations with clinical phenotype. Biomark Med 2010;4:99-112.