A cortical form of CADASIL with cerebral Aβ amyloidosis

Acta Neuropathologica

Volumn 120, Issue 6, 2010, Pages 813-820

  Paquet, Claire ^a,b   Jouvent, Eric ^c   Mine, Manuèle ^a   Vital, Anne ^a   Hugon, Jacques ^a,b   Chabriat, Hugues ^c   Gray, Françoise ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Abeta; Alzheimer disease; ApoE; CADASIL; Cortical changes; Small vessel disease

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN[1-42]; NOTCH3 RECEPTOR; TAU PROTEIN;

ADULT; ALZHEIMER DISEASE; AMYLOID PLAQUE; ANAMNESIS; ARTICLE; ATAXIA; AUTOPSY; BASAL GANGLION; BRAIN CORTEX; CADASIL; CASE REPORT; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; COGNITIVE DEFECT; DEPRESSION; DISEASE ASSOCIATION; DISEASE COURSE; DYSARTHRIA; FAMILY HISTORY; FATALITY; FLUENCY DISORDER; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HEMIPARESIS; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; LEPTOMENINX; MALE; MEMORY DISORDER; MENTAL DETERIORATION; MIGRAINE WITH AURA; NEUROFIBRILLARY TANGLE; NEUROIMAGING; NEUROPATHOLOGY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS; PRIORITY JOURNAL; PROTEIN SYNTHESIS; VASCULAR AMYLOIDOSIS; WHITE MATTER;

AMYLOID BETA-PEPTIDES; AMYLOIDOSIS; BRAIN INFARCTION; CADASIL; CEREBRAL ARTERIES; CEREBRAL CORTEX; HUMANS; MALE; MIDDLE AGED;

EID: 78651089173     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-010-0758-y     Document Type: Article

References (45)

1. Barelli H, Lebeau A, Vizzavona J, Delaere P, Chevallier N, Drouot C, Marambaud P, Ancolio K, Buxbaum JD, Khorkova O, Heroux J, Sahasrabudhe S, Martinez J, Warter JM, Mohr M, Checler F (1997) Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases. Mol Med 3:695-707
2. Battisti C, Formichi P, Radi E, Malandrini A, Federico A (2009) Evaluation of brain apoptosis in a CADASIL postmortem case. Clin Neuropathol 28:358-361
3. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG (1993) Autosomal dominant leukoencephalopathy and subcortical ischemic stroke: a clinicopathological study. Stroke 24:122-125 (Pubitemid 23014394)
4. Boche D, Zotova E, Weller RO, Love S, Neal JW, Pickering RM, Wilkinson D, Holmes C, Nicoll JA (2008) Consequence of Abeta immunization on the vasculature of human Alzheimer's disease brain. Brain 131:3299-3310 (Epub 2008 Oct 3225)
5. Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K, Bousser MG, Chabriat H (2006) Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry 77:175-180
6. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) Cadasil. Lancet Neurol 8:643-653
7. Cumurciuc R, Guichard JP, Reizine D, Gray F, Bousser MG, Chabriat H (2006) Dilation of Virchow-Robin spaces in CADASIL. Eur J Neurol 13:187-190
8. Delaere P, Duyckaerts C, Masters C, Beyreuther K, Piette F, Hauw JJ (1990) Large amounts of neocortical beta A4 deposits without neuritic plaques nor tangles in a psychometrically assessed, non-demented person. Neurosci Lett 116:87-93
9. Dichgans M, Holtmannspotter M, Herzog J, Peters N, Bergmann M, Yousry TA (2002) Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. Stroke 33:67-71
10. Dickson DW, Crystal HA, Mattiace LA, Masur DM, Blau AD, Davies P, Yen SH, Aronson MK (1992) Identification of normal and pathological aging in prospectively studied nondemented elderly humans. Neurobiol Aging 13:179-189
11. Duyckaerts C, Delatour B, Potier MC (2009) Classification and basic pathology of Alzheimer disease. Acta Neuropathol 118: 5-36
12. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Duijn CM (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 278:1349-1356
13. Formichi P, Parnetti L, Radi E, Cevenini G, Dotti MT, Federico A (2008) CSF levels of beta-amyloid 1-42, tau and phosphorylated tau protein in CADASIL. Eur J Neurol 15:1252-1255 (Epub 2008 Sept 1218)
14. Gold G, Giannakopoulos P, Herrmann FR, Bouras C, Kovari E (2007) Identification of Alzheimer and vascular lesion thresholds for mixed dementia. Brain 130:2830-2836 (Epub 2007 Sept 2818)
15. Gray F, Polivka M, Viswanathan A, Baudrimont M, Bousser MG, Chabriat H (2007) Apoptosis in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol 66:597-607
16. Gray F, Robert F, Labrecque R, Chretien F, Baudrimont M, Fallet-Bianco C, Mikol J, Vinters HV (1994) Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease. Neuropathol Appl Neurobiol 20:22-30 (Pubitemid 24078162)
17. Hardy J, Selkoe DJ (2002) The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 297:353-356
18. Jack CR Jr, Knopman DS, Jagust WJ, Shaw LM, Aisen PS, Weiner MW, Petersen RC, Trojanowski JQ (2010) Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol 9:119-128
19. Joutel A, Andreux F, Gaulis S, Domenga V, Cecillon M, Battail N, Piga N, Chapon F, Godfrain C, Tournier-Lasserve E (2000) The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest 105:597-605
20. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cecillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707-710
21. Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, Domenga V, Cecillon M, Vahedi K, Ducros A, Cave-Riant F, Bousser MG, Tournier-Lasserve E (2001) Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet 358:2049-2051
22. Jouvent E, Mangin JF, Porcher R, Viswanathan A, O'Sullivan M, Guichard JP, Dichgans M, Bousser MG, ChabriatH(2008) Cortical changes in cerebral small vessel diseases: a 3D MRI study of cortical morphology in CADASIL. Brain 131:2201-2208 (Epub 2008 June 2224)
23. Kalimo H, Kalaria R, Hereditary Forms of Vascular Dementia, in Pathology & Genetics. Cerebrovascular Diseases, H. Kalimo, Editor. 2005, ISN Neuropath Press: Basel. p 351
24. Kalimo H, Ruchoux MM, Viitanen M, Kalaria RN (2002) CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathol 12:371-384
25. Kok E, Haikonen S, Luoto T, Huhtala H, Goebeler S, Haapasalo H, Karhunen PJ (2009) Apolipoprotein E-dependent accumulation of Alzheimer disease-related lesions begins in middle age. Ann Neurol 65:650-657
26. Lathia JD, Mattson MP, Cheng A (2008) Notch: from neural development to neurological disorders. J Neurochem 107:1471-1481
27. Lowe J, Mirra SS, Hyman BT, Dickson DW (2008) Ageing and dementia. In: Love S, Louis DN, Ellison DW (eds) Greenfield's neuropathology. Hodder Arnold, London, pp 1031-1152
28. Mesulam M, Siddique T, Cohen B (2003) Cholinergic denervation in a pure multi-infarct state: observations on CADASIL. Neurology 60:1183-1185
29. Paquet C, Jouvent E, Mine M, Vital A, Chabriat H, Gray F (2010) Abundant Abeta deposition in a patient with CADASIL. Brain Pathol 20(suppl 1):19
30. Peters N, Opherk C, Danek A, Ballard C, Herzog J, Dichgans M (2005) The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia. Am J Psychiatry 162:2078-2085
31. Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D (1995) Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 89:500-512
32. Ruchoux MM, Maurage CA (1997) CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol 56:947-964
33. Selkoe D, Kopan R (2003) Notch and Presenilin: regulated intramembrane proteolysis links development and degeneration. Annu Rev Neurosci 26:565-597 (Epub 2003 April 2018)
34. Sonnen JA, Larson EB, Crane PK, Haneuse S, Li G, Schellenberg GD, Craft S, Leverenz JB, Montine TJ (2007) Pathological correlates of dementia in a longitudinal, population-based sample of aging. Ann Neurol 62:406-413
35. Sperling R (2010) Redefining Alzheimer's Disease (NIH). In: 10 Alzheimer's Association International Conference on Alzheimer' Disease 2010. Honolulu, Hawaii
36. Tapiola T, Alafuzoff I, Herukka SK, Parkkinen L, Hartikainen P, Soininen H, Pirttila T (2009) Cerebrospinal fluid {beta}-amyloid and tau proteins as biomarkers of Alzheimer-type pathologic changes in the brain. Arch Neurol 66:382-389
37. Thijs V, Robberecht W, De Vos R, Sciot R (2003) Coexistence of CADASIL and Alzheimer's disease. J Neurol Neurosurg Psychiatry 74:790-792
38. Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG (1991) Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 22:1297-1302
39. Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, Mas JL, Cabanis EA, Baudrimont M, Maciazek J et al (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3:256-259
40. Turner PR, O'Connor K, Tate WP, Abraham WC (2003) Roles of amyloid precursor protein and its fragments in regulating neural activity, plasticity and memory. Prog Neurobiol 70:1-32
41. van den Boom R, Lesnick Oberstein SA, van den Berg-Huysmans AA, Ferrari MD, van Buchem MA, Haan J (2006) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: structural MR imaging changes and apolipoprotein E genotype. AJNR Am J Neuroradiol 27:359-362
42. Viswanathan A, Gray F, Bousser MG, Baudrimont M, Chabriat H (2006) Cortical neuronal apoptosis in CADASIL. Stroke 37:2690-2695 (Epub 2006 Sep 2628)
43. Weller RO, Boche D, Nicoll JA (2009) Microvasculature changes and cerebral amyloid angiopathy in Alzheimer's disease and their potential impact on therapy. Acta Neuropathol 118:87-102
44. Weller RO, Subash M, Preston SD, Mazanti I, Carare RO (2008) Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. Brain Pathol 18:253-266
45. Weller RO, Yow HY, Preston SD, Mazanti I, Nicoll JA (2002) Cerebrovascular disease is a major factor in the failure of elimination of Abeta from the aging human brain: implications for therapy of Alzheimer's disease. Ann N Y Acad Sci 977:162-168