White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Neuropathology and Applied Neurobiology

Volumn 40, Issue 5, 2014, Pages 591-602

  Craggs, Lucinda J L ^a   Yamamoto, Yumi ^b   Ihara, Masafumi ^b   Fenwick, Richard ^a   Burke, Matthew ^a   Oakley, Arthur E ^a   Roeber, Sigrun ^c   Duering, Marco ^d   Kretzschmar, Hans ^c   Kalaria, Raj N ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^c UNIVERSITY OF MUNICH   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

CADASIL; Cognitive impairment; Disconnection; Stroke; Vascular dementia; White matter changes

Indexed keywords

AMYLOID PRECURSOR PROTEIN; ANTIBODY; NEUROFILAMENT PROTEIN; SMI 32 ANTIBODY; SMI132 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTERIOLE; ARTICLE; AUTOPSY; BRAIN REGION; CADASIL; CELL DENSITY; CINGULATE GYRUS; COGNITIVE DEFECT; CONTROLLED STUDY; FASCIA DENTATA; FEMALE; FRONTAL LOBE; GLIA CELL; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MALE; MIDDLE AGED; NERVE CELL NETWORK; NERVE FIBER; NERVOUS SYSTEM PARAMETERS; NEUROPATHOLOGY; PARIETAL LOBE; PARIETO-OCCIPITAL SULCUS; PRIMARY MOTOR CORTEX; PRIORITY JOURNAL; SCLEROSIS; SCLEROTIC INDEX; STEREOMETRY; WHITE MATTER; AXON; BRAIN; METABOLISM; PATHOLOGY; VASCULARIZATION;

ADULT; AGED; AMYLOID BETA-PROTEIN PRECURSOR; AXONS; BRAIN; CADASIL; FEMALE; FRONTAL LOBE; HUMANS; MALE; MIDDLE AGED; NERVE NET; WHITE MATTER;

EID: 84903512111     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12073     Document Type: Article

References (30)

1. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser M-G. CADASIL. Lancet Neurol 2009; 8: 643-653
2. Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K, Bousser MG, Chabriat H. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry 2006; 77: 175-180
3. Viswanathan A, Gschwendtner A, Guichard JP, Buffon F, Cumurciuc R, O'Sullivan M, Holtmannspötter M, Pachai C, Bousser MG, Dichgans M, Chabriat H. Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL. Neurology 2007; 69: 172-179
4. O'Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001; 56: 628-634
5. O'Sullivan M, Singhal S, Charlton R, Markus HS. Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia. Neurology 2004; 62: 702-707
6. Chabriat H, Pappata S, Poupon C, Clark CA, Vahedi K, Poupon F, Mangin JF, Pachot-Clouard M, Jobert A, Le Bihan D, Bousser M. Clinical severity in CADASIL related to ultrastructural damage in white matter: in vivo study with diffusion tensor MRI. Stroke 1999; 30: 2637-2643
7. Holtmannspotter M, Peters N, Opherk C, Martin D, Herzog J, Bruckmann H, Samann P, Gschwendtner A, Dichgans M. Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study. Stroke 2005; 36: 2559-2565
8. Yamamoto Y, Ihara M, Tham C, Low WC, Slade JY, Moss T, Oakley AE, Polvikoski T, Kalaria RN. Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL. Stroke 2009; 40: 2004-2011
9. Allan LM, Rowan EN, Firbank MJ, Thomas AJ, Parry SW, Polvikoski TM, O'Brien JT, Kalaria RN. Long term incidence of dementia, predictors of mortality and pathological diagnosis in older stroke survivors. Brain 2011; 134: 3716-3727
10. Craggs LJ, Hagel C, Kuhlenbaeumer G, Borjesson-Hanson A, Andersen O, Viitanen M, Kalimo H, McLean CA, Slade JY, Hall RA, Oakley AE, Yamamoto Y, Deramecourt V, Kalaria RN. Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases. Brain Pathol 2013. doi:10.1111/bpa.12041
11. Perry RH, Oakley AE. Newcastle Brain Map. London: Wolfe, 1993
12. Kalaria RN, Kenny RA, Ballard CG, Perry R, Ince P, Polvikoski T. Towards defining the neuropathological substrates of vascular dementia. J Neurol Sci 2004; 226: 75-80
13. Deramecourt V, Slade JY, Oakley AE, Perry RH, Ince PG, Maurage CA, Kalaria RN. Staging and natural history of cerebrovascular pathology in dementia. Neurology 2012; 78: 1043-1050
14. Hof PR, Nimchinsky EA, Morrison JH. Neurochemical phenotype of corticocortical connections in the macaque monkey: quantitative analysis of a subset of neurofilament protein-immunoreactive projection neurons in frontal, parietal, temporal, and cingulate cortices. J Comp Neurol 1995; 362: 109-133
15. Lindner M, Fokuhl J, Linsmeier F, Trebst C, Stangel M. Chronic toxic demyelination in the central nervous system leads to axonal damage despite remyelination. Neurosci Lett 2009; 453: 120-125
16. Voelker CC, Garin N, Taylor JS, Gahwiler BH, Hornung JP, Molnar Z. Selective neurofilament (SMI-32, FNP-7 and N200) expression in subpopulations of layer V pyramidal neurons in vivo and in vitro. Cereb Cortex 2004; 14: 1276-1286
17. Yamamoto Y. Density of Microvascular Components in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Newcastle upon Tyne: Medical Sciences, Newcastle University, 2006
18. Lammie GA, Brannan F, Slattery J, Warlow C. Nonhypertensive cerebral small-vessel disease: an autopsy study. Stroke 1997; 28: 2222-2229
19. Coulthard A, Blank SC, Bushby K, Kalaria RN, Burn DJ. Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br J Radiol 2000; 73: 256-265
20. Manganelli F, Ragno M, Cacchiò G, Iodice V, Trojano L, Silvaggio F, Scarcella M, Grazioli M, Santoro L, Perretti A. Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration. Clin Neurophysiol 2008; 119: 351-355
21. Miao Q, Paloneva T, Tuisku S, Roine S, Poyhonen M, Viitanen M, Kalimo H. Arterioles of the lenticular nucleus in CADASIL. Stroke 2006; 37: 2242-2247
22. Miao Q, Paloneva T, Tuominen S, Poyhonen M, Tuisku S, Viitanen M, Kalimo H. Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Brain Pathol 2004; 14: 358-364
23. Peters N, Opherk C, Danek A, Ballard C, Herzog J, Dichgans M. The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia. Am J Psychiatry 2005; 162: 2078-2085
24. O'Sullivan M, Barrick TR, Morris RG, Clark CA, Markus HS. Damage within a network of white matter regions underlies executive dysfunction in CADASIL. Neurology 2005; 65: 1584-1590
25. Fernando MS, Simpson JE, Matthews F, Brayne C, Lewis CE, Barber R, Kalaria RN, Forster G, Esteves F, Wharton SB, Shaw PJ, O'Brien J, Ince PG. White matter lesions in an unselected cohort of the elderly: molecular pathology suggests origin from chronic hypoperfusion injury. Stroke 2006; 37: 1391-1398
26. Ihara M, Polvikoski TM, Hall R, Slade JY, Perry RH, Oakley AE, Englund E, O'Brien JT, Ince PG, Kalaria RN. Quantification of myelin loss in frontal lobe white matter in vascular dementia, Alzheimer's disease, and dementia with Lewy bodies. Acta Neuropathol 2010; 119: 579-589
27. Catani M, Ffytche DH. The rises and falls of disconnection syndromes. Brain 2005; 128: 2224-2239
28. Tatsch K, Koch W, Linke R, Poepperl G, Peters N, Holtmannspoetter M, Dichgans M. Cortical hypometabolism and crossed cerebellar diaschisis suggest subcortically induced disconnection in CADASIL: an 18F-FDG PET study. J Nucl Med 2003; 44: 862-869
29. O'Sullivan M, Ngo E, Viswanathan A, Jouvent E, Gschwendtner A, Saemann PG, Duering M, Pachai C, Bousser M-G, Chabriat H, Dichgans M. Hippocampal volume is an independent predictor of cognitive performance in CADASIL. Neurobiol Aging 2009; 30: 890-897
30. Gemmell E, Bosomworth H, Allan L, Hall R, Khundakar A, Oakley AE, Deramecourt V, Polvikoski TM, O'Brien JT, Kalaria RN. Hippocampal neuronal atrophy and cognitive function in delayed poststroke and aging-related dementias. Stroke 2012; 43: 808-814