Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL
Abstract
Background and Purpose— Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke and cognitive decline. Previous studies have shown an association between white matter hyperintensities on brain MRI and cognitive dysfunction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In the general population the presence of lacunar infarcts and microbleeds is also associated with cognitive dysfunction. The objective of this study was to determine to what extent lacunar infarcts and microbleeds on MRI contribute to cognitive decline in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Methods— NOTCH3 mutation analysis was performed in 62 symptomatic and asymptomatic members of 15 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy families. Neuropsychological tests were performed on the same day as the MRI examination. MRI was semi-quantitatively scored for white matter hyperintensities, infarct lesion load, and microbleeds. Regression analysis was performed to test the association between MRI abnormalities and neuropsychological test results. Results— Forty individuals had a NOTCH3 mutation and 22 did not. Severity of cognitive dysfunction in mutation carriers was independently associated with MRI infarct lesion load ( P <0.05). In contrast, WMH lesion load and microbleeds were not associated with cognitive dysfunction after correcting for age. Conclusions— Lacunar infarct lesion load is the most important MRI parameter associated with cognitive dysfunction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
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The burden of lacunes has been proposed as the most relevant MRI marker for cognitive impairments in CADASIL.
“As such, the burden of lacunes has been proposed as the most relevant MRI maker with regards to cognitive impairments in CADASIL [36, 40, 73].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [40]
A larger volume of lacunes is consistently linked with poorer clinical outcomes or cognitive performances in CADASIL patients.
“In contrast with WMH or CM, a larger volume of lacunes has been consistently linked with poorer clinical outcomes or cognitive performances in CADASIL patients [11, 36, 40, 50, 53, 59, 71, 73].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [40]
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Cites
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,841 · see citing works
Folstein, M. F., Folstein, S. E., & McHugh, P. R. (1975) · Journal of Psychiatric Research · doi:10.1016/0022-3956(75)90026-6 · Cited by 88,282 · see citing works
Studies of interference in serial verbal reactions
Stroop, J. R. (1935) · Journal of Experimental Psychology · doi:10.1037/h0054651 · Cited by 18,622 · see citing works
VALIDITY OF THE TRAIL MAKING TEST AS AN INDICATOR OF ORGANIC BRAIN DAMAGE
Reitan, R. M. (1958) · Perceptual and Motor Skills · doi:10.2466/pms.1958.8.3.271 · Cited by 7,925 · see citing works
A compendium of neuropsychological tests: administration, norms, and commentary
(1991) · Choice Reviews Online · doi:10.5860/choice.29-2400 · Cited by 6,117 · see citing works
Diffusion tensor imaging: Concepts and applications
Le Bihan, D., Mangin, J., Poupon, C., Clark, C. A., Pappata, S., Molko, N., & Chabriat, H. (2001) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.1076 · Cited by 3,547 · see citing works
A Standardized Memory Scale for Clinical Use
Wechsler, D. (1945) · The Journal of Psychology · doi:10.1080/00223980.1945.9917223 · Cited by 2,960 · see citing works
Silent Brain Infarcts and the Risk of Dementia and Cognitive Decline
Vermeer, S. E., Prins, N. D., den Heijer, T., Hofman, A., Koudstaal, P. J., & Breteler, M. M. B. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022066 · Cited by 2,313 · see citing works
Roth, M., Tym, E., Mountjoy, C. Q., Huppert, F. A., Hendrie, H., Verma, S., & Goddard, R. (1986) · British Journal of Psychiatry · doi:10.1192/bjp.149.6.698 · Cited by 2,090 · see citing works
Studies of interference in serial verbal reactions.
Stroop, J. R. (1992) · Journal of Experimental Psychology: General · doi:10.1037/0096-3445.121.1.15 · Cited by 918 · see citing works
Prins, N. D., van Dijk, E. J., den Heijer, T., Vermeer, S. E., JOLLES, J., Koudstaal, P. J., Albert Hofman, D., & Breteler, M. M. B. (2005) · Brain · doi:10.1093/brain/awh553 · Cited by 732 · see citing works
The phenotypic spectrum of CADASIL: Clinical findings in 102 cases
Dichgans, M., Mayer, M., Uttner, I., Brüning, R., Müller‐Höcker, J., Rungger, G., Ebke, M., Klockgether, T., & Gasser, T. (1998) · Annals of Neurology · doi:10.1002/ana.410440506 · Cited by 729 · see citing works
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
Joutel, A., Vahedi, K., Corpechot, C., Troesch, A., Chabriat, H., Vayssière, C., Cruaud, C., Maciazek, J., Weissenbach, J., Bousser, M.-G., et al. (1997) · The Lancet · doi:10.1016/s0140-6736(97)08083-5 · Cited by 682 · see citing works
Clinical spectrum of CADASIL: a study of 7 families
Chabriat, H., Vahedi, K., Bousser, M. G., Iba-Zizen, M. T., Joutel, A., Nibbio, A., Nagy, T. G., Tournier Lasserve, E., Krebs, M. O., Julien, J., et al. (1995) · The Lancet · doi:10.1016/s0140-6736(95)91557-5 · Cited by 669 · see citing works
Periventricular cerebral white matter lesions predict rate of cognitive decline
de Groot, J. C., de Leeuw, F., Oudkerk, M., van Gijn, J., Albert Hofman, D., JOLLES, J., & Breteler, M. M. B. (2002) · Annals of Neurology · doi:10.1002/ana.10294 · Cited by 431 · see citing works
Cognitive dysfunction in patients with cerebral microbleeds on T2*-weighted gradient-echo MRI
Werring, D. J. (2004) · Brain · doi:10.1093/brain/awh253 · Cited by 421 · see citing works
Ruchoux, M. M., Guerouaou, D., Vandenhaute, B., Pruvo, J., Vermersch, P., & Leys, D. (1995) · Acta Neuropathologica · doi:10.1007/bf00571504 · Cited by 326 · see citing works
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients
Opherk, C. (2004) · Brain · doi:10.1093/brain/awh282 · Cited by 313 · see citing works
Are Lacunar Strokes Really Different?
Jackson, C., & Sudlow, C. L. M. (2005) · Stroke · doi:10.1161/01.str.0000157949.34986.30 · Cited by 271 · see citing works
Bokura, H., Kobayashi, S., & Yamaguchi, S. (1998) · Journal of Neurology · doi:10.1007/s004150050189 · Cited by 245 · see citing works
Fully automatic segmentation of white matter hyperintensities in MR images of the elderly
Behloul, F., van den Heuvel, D. M. J., Olofsen, H., van Osch, M. J. P., van der Grond, J., van Buchem, M. A., & Reiber, J. H. C. (2005) · NeuroImage · doi:10.1016/j.neuroimage.2005.06.061 · Cited by 231 · see citing works
van den Boom, R., Lesnik Oberstein, S. A. J., Ferrari, M. D., Haan, J., & van Buchem, M. A. (2003) · Radiology · doi:10.1148/radiol.2293021354 · Cited by 224 · see citing works
Self-citationThe influence of genetic and cardiovascular risk factors on the CADASIL phenotype
Singhal, S. (2004) · Brain · doi:10.1093/brain/awh223 · Cited by 220 · see citing works
Cerebral microbleeds in CADASIL
Lesnik Oberstein, S. A. J., van den Boom, R., van Buchem, M. A., van Houwelingen, H. C., Bakker, E., Vollebregt, E., Ferrari, M. D., Breuning, M. H., & Haan, J. (2001) · Neurology · doi:10.1212/wnl.57.6.1066 · Cited by 218 · see citing works
Self-citationChabriat, H., Pappata, S., Poupon, C., Clark, C. A., Vahedi, K., Poupon, F., Mangin, J. F., Pachot-Clouard, M., Jobert, A., Le Bihan, D., et al. (1999) · Stroke · doi:10.1161/01.str.30.12.2637 · Cited by 214 · see citing works
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Dichgans, M. (2002) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(02)00270-8 · Cited by 159 · see citing works
Holtmannspötter, M., Peters, N., Opherk, C., Martin, D., Herzog, J., Brückmann, H., Sämann, P., Gschwendtner, A., & Dichgans, M. (2005) · Stroke · doi:10.1161/01.str.0000189696.70989.a4 · Cited by 140 · see citing works
Quantitative MRI in CADASIL: Correlation with disability and cognitive performance
Dichgans, M., Filippi, M., Brüning, R., Iannucci, G., Berchtenbreiter, C., Minicucci, L., Uttner, I., Crispin, A., Ludwig, H., Gasser, T., et al. (1999) · Neurology · doi:10.1212/wnl.52.7.1361 · Cited by 120 · see citing works
Cognitive Alterations in Non-Demented CADASIL Patients
Taillia, H., Chabriat, H., Kurtz, A., Vérin, M., Lévy, C., Vahedi, K., Tournier‐Lasserve, E., & Bousser, M. (1998) · Cerebrovascular Diseases · doi:10.1159/000015825 · Cited by 112 · see citing works
Damage within a network of white matter regions underlies executive dysfunction in CADASIL
O'Sullivan, M. J., Barrick, T. R., Morris, R. G., Clark, C., & Markus, H. S. (2005) · Neurology · doi:10.1212/01.wnl.0000184480.07394.fb · Cited by 112 · see citing works
Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia
O’Sullivan, M., Singhal, S., Charlton, R., & Markus, H. S. (2004) · Neurology · doi:10.1212/01.wnl.0000113760.72706.d2 · Cited by 101 · see citing works
Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients
Oberstein, S. A. J. L., Ferrari, M. D., Bakker, E., van Gestel, J., Kneppers, A. L. J., Frants, R. R., Breuning, M. H., & Haan, J. (1999) · Neurology · doi:10.1212/wnl.52.9.1913 · Cited by 79 · see citing works
Self-citationYousry, T. A., Seelos, K., Mayer, M., Brüning, R., Uttner, I., Dichgans, M., Mammì, S., Straube, A. M., Mai, N., & Filippi, M. (1999) · PubMed · Cited by 77 · see citing works
Iannucci, G., Dichgans, M., Rovaris, M., Brüning, R., Gasser, T., Giacomotti, L., Yousry, T. A., & Filippi, M. (2001) · Stroke · doi:10.1161/01.str.32.3.643 · Cited by 61 · see citing works
Flagged first, then by citations
1 of the 35 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Duering, M., Zieren, N., Hervé, D., Jouvent, E., Reyes, S., Peters, N., Pachai, C., Opherk, C., Chabriat, H., & Dichgans, M. (2011) · Brain · doi:10.1093/brain/awr169 · Cited by 200 · see citing works
“…between lesion volumes and cognitive performance has been demonstrated for infarcts (Erkinjuntti et al., 1988; Tatemichi et al., 1993; Pohjasvaara et al., 1998), lacunar infarcts (Mungas et al., 2005; Liem et al., 2007) and white matter lesions (O'Brien et al., 2002; Prins et al., 2005).”
BackgroundIncident lacunes influence cognitive decline: The LADIS study
Jokinen, H., Gouw, A. A., Madureira, S., Ylikoski, R., van Straaten, E. C. W., van der Flier, W. M., Barkhof, F., Scheltens, P., Fazekas, F., Schmidt, R., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e31821d752f · Cited by 200 · see citing works
<scp>CADASIL</scp> and <scp>CARASIL</scp>
Tikka, S., Baumann, M., Siitonen, M., Pasanen, P., Pöyhönen, M., Myllykangas, L., Viitanen, M., Fukutake, T., Cognat, E., Joutel, A., et al. (2014) · Brain Pathology · doi:10.1111/bpa.12181 · Cited by 189 · see citing works
“Lacunar infarct lesion load is the most important MRI parameter associated with cognitive dysfunction in CADASIL (77).”
BackgroundMorphologic diagnosis of “vascular dementia” — A critical update
Jellinger, K. A. (2008) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2008.03.006 · Cited by 150 · see citing works
Biesbroek, J. M., Kuijf, H. J., van der Graaf, Y., Vincken, K. L., Postma, A., Mali, W. P. T. M., Biessels, G. J., Geerlings, M. I., & on behalf of the SMART Study Group (2013) · PLoS ONE · doi:10.1371/journal.pone.0060541 · Cited by 108 · see citing works
MRI correlates of cognitive decline in CADASIL: A 7-year follow-up study
Liem, M. K., Lesnik Oberstein, S. A. J., Haan, J., van der Neut, I. L., Ferrari, M. D., van Buchem, M. A., Middelkoop, H. A. M., & van der Grond, J. (2009) · Neurology · doi:10.1212/01.wnl.0000339038.65508.96 · Cited by 104 · see citing works
Self-citationVitali, P., Migliaccio, R., Agosta, F., Rosen, H., & Geschwind, M. D. (2008) · Seminars in Neurology · doi:10.1055/s-0028-1083695 · Cited by 103 · see citing works
Craggs, L., Yamamoto, Y., Deramecourt, V., & Kalaria, R. N. (2014) · Brain Pathology · doi:10.1111/bpa.12177 · Cited by 95 · see citing works
“They increase with age and are associated with cognitive impairment (73, 115), but are indistinguishable between sporadic or hereditary SVD disorders.”
BackgroundClinical and Genetic Aspects of CADASIL
Mizuno, T., Mizuta, I., Watanabe-Hosomi, A., Mukai, M., & Koizumi, T. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00091 · Cited by 97 · see citing works
Cognitive impairment of vascular origin: Neuropathology of cognitive impairment of vascular origin
Ferrer, I. (2010) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2010.08.039 · Cited by 79 · see citing works
“The morphological substrate of cognitive impairment in CADASIL seems to be multiple [124,125], although the role of lacunar infarcts is paramount for some authors [126], while not accepted by others [127].”
CADASIL and migraine: A narrative review
Liem, M. K., Oberstein, S. A. J. L., van der Grond, J., Ferrari, M. D., & Haan, J. (2010) · Cephalalgia · doi:10.1177/0333102410370870 · Cited by 78 · see citing works
“Lacunar infarcts are associated with cognitive dysfunction (14).”
BackgroundSelf-citationChoi, J. C. (2010) · Journal of Clinical Neurology · doi:10.3988/jcn.2010.6.1.1 · Cited by 72 · see citing works
Wang, M. M. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00047-8 · Cited by 69 · see citing works
Ayata, C. (2010) · Stroke · doi:10.1161/strokeaha.110.595207 · Cited by 68 · see citing works
Choi, J. C., Song, S.-K., Lee, J. S., Kang, S.-Y., & Kang, J.-H. (2013) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2011.07.002 · Cited by 66 · see citing works
“2 mm in diameter with a signal intensity of cerebrospinal fluid in all sequences.(13) The lesions located in the lower third of the corpus striatum of the basal ganglia were excluded.”
BackgroundPinkston, J. B., Alekseeva, N., & Toledo, E. G. (2009) · Neurological Research · doi:10.1179/016164109x12445505689643 · Cited by 66 · see citing works
Imaging evolution of acute lacunar infarction
Koch, S., McClendon, M. S., & Bhatia, R. G. (2011) · Neurology · doi:10.1212/wnl.0b013e31822e1470 · Cited by 65 · see citing works
Liem, M. K., Oberstein, S. A. J. L., Haan, J., van den Boom, R., Ferrari, M. D., van Buchem, M. A., & van der Grond, J. (2009) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1533 · Cited by 59 · see citing works
“Microbleeds were defined as focal areas of signal intensity loss on T2-weighted spin-echo images that increased in size on the T2*weighted gradient EPI (“blooming effect”).(10) In this way, microbleeds were differentiated from areas of signal intensity loss on the basis of vascular flow void.”
BackgroundSelf-citationYamamoto, Y., Liao, Y., Lee, Y., Ihara, M., & Choi, J. C. (2023) · Journal of Clinical Neurology · doi:10.3988/jcn.2023.19.1.12 · Cited by 58 · see citing works
Dichgans, M. (2008) · Stroke · doi:10.1161/strokeaha.108.534412 · Cited by 51 · see citing works
Kleinfeld, K., Mobley, B. C., Hedera, P., Wegner, A. M., Sriram, S., & Pawate, S. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6680-6 · Cited by 50 · see citing works
“In addition, CADASIL shows a particular predilection for the bilateral anterior temporal lobes [41–43].”
CADASIL: pathogenesis, clinical and radiological findings and treatment
André, C. (2010) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2010000200026 · Cited by 48 · see citing works
Microbleeds in vascular dementia: Clinical aspects
van der Flier, W. M., & Cordonnier, C. (2012) · Experimental Gerontology · doi:10.1016/j.exger.2012.07.007 · Cited by 48 · see citing works
Nannucci, S., Rinnoci, V., Pracucci, G., MacKinnon, A. D., Pescini, F., Adib‐Samii, P., Bianchi, S., Dotti, M. T., Federico, A., Inzitari, D., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0190878 · Cited by 46 · see citing works
MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)
Ding, X. Q., Hagel, C., Ringelstein, E. B., Buchheit, S., Zeumer, H., Kuhlenbäumer, G., Appenzeller, S., & Fiehler, J. (2010) · Journal of Neuroimaging · doi:10.1111/j.1552-6569.2008.00336.x · Cited by 45 · see citing works
Serum Neurofilament light correlates with CADASIL disease severity and survival
Gravesteijn, G., Rutten, J. W., Verberk, I. M. W., Böhringer, S., Liem, M. K., van der Grond, J., Aartsma-Rus, A. M., Teunissen, C. E., & Oberstein, S. A. J. L. (2018) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.678 · Cited by 43 · see citing works
Self-citationLiem, M. K., Lesnik Oberstein, S. A. J., Haan, J., van der Neut, I. L., van den Boom, R., Ferrari, M. D., van Buchem, M. A., & van der Grond, J. (2008) · Radiology · doi:10.1148/radiol.2492080357 · Cited by 40 · see citing works
“Microbleeds were defined as focal areas of signal loss on T2-weighted spinecho images that were increased in size on T2*-weighted gradient-echo echoplanar images (blooming effect) (6).”
BackgroundInfluentialSelf-citationYao, M., Jouvent, E., During, M., Godin, O., Hervé, D., Guichard, J. P., Zhu, Y.-C., Gschwendtner, A., Opherk, C., Dichgans, M., et al. (2012) · Stroke · doi:10.1161/strokeaha.112.664854 · Cited by 42 · see citing works
“Second, WMH are poorly related to the clinical severity in CADASIL and can be detected at the late stage of the disease in the total absence of lacunar infarction.(21,22) Third, WMH are detected early in the temporal lobes during the course of the disease, a long time before the onset of ischemic stroke usually occurr…”
BackgroundLiu, J., Xia, S., Hanks, R. A., Wiseman, N. M., Peng, C., Zhou, S., Haacke, E. M., & Kou, Z. (2015) · Journal of Neurotrauma · doi:10.1089/neu.2014.3856 · Cited by 40 · see citing works
Ling, Y., Guio, F. D., Duering, M., Jouvent, É., Hervé, D., Godin, O., Dichgans, M., & Chabriat, H. (2016) · Stroke · doi:10.1161/strokeaha.116.015750 · Cited by 39 · see citing works
Clinical and research applications of magnetic resonance imaging in the study of CADASIL
Schoemaker, D., Quiroz, Y. T., Torrico-Teave, H., & Arboleda-Velasquez, J. F. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2019.01.014 · Cited by 36 · see citing works
Vasoreactivity in CADASIL: comparison to structural MRI and neuropsychology
Moreton, F. C., Cullen, B., Delles, C., Santosh, C., Gonzalez, R. L., Dani, K., & Muir, K. W. (2018) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x17710375 · Cited by 37 · see citing works
“Combining ASL with a hypercapnia challenge, again novel in this disease, we showed impaired cerebral vasoreactivity, was related to number of lacunes and brain atrophy, important correlates of clinical impairment.(26) Patients with greater disability, depression and impaired processing speed, also tended to have worse…”
BackgroundNardone, R., Blasi, P. D., Seidl, M., Höller, Y., Caleri, F., Tezzon, F., Ladurner, G., Golaszewski, S. M., & Trinka, E. (2011) · Journal of Neural Transmission · doi:10.1007/s00702-011-0650-5 · Cited by 37 · see citing works
“Only in CADASIL patients MBs were previously found not to be associated with cognitive dysfunction (Liem et al. 2007).”
Enhanced Rapid-Onset Cortical Plasticity in CADASIL as a Possible Mechanism of Preserved Cognition
List, J., Duning, T., Meinzer, M., Kürten, J., Schirmacher, A., Deppe, M., Evers, S., Young, P., & Flöel, A. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhr071 · Cited by 34 · see citing works
“Quantification of lacunar lesions The burden of lacunar lesions was determined by assessing parenchymal defects not extending to the cortical gray matter, with signal intensity corresponding to that of cerebrospinal fluid and a diameter between 2 and 15 mm on T1weighted scans (Liem et al. 2007).”
Salvadori, E., Brambilla, M., Maestri, G., Nicotra, A., Cova, I., Pomati, S., & Pantoni, L. (2022) · Alzheimer s & Dementia · doi:10.1002/alz.12650 · Cited by 34 · see citing works
Stromillo, M. L., Dotti, M. T., Battaglini, M., Mortilla, M., Bianchi, S., Plewnia, K., Pantoni, L., Inzitari, D., Federico, A., & Stefano, N. D. (2008) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2008.155853 · Cited by 33 · see citing works
Prediction of 3-year clinical course in CADASIL
Jouvent, E., Duchesnay, E., Hadj-Selem, F., De Guio, F., Mangin, J.-F., Hervé, D., Duering, M., Ropele, S., Schmidt, R., Dichgans, M., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000003252 · Cited by 30 · see citing works
White-matter lesions without lacunar infarcts in CADASIL
Benisty, S., Reyes, S., Godin, O., Hervé, D., Zieren, N., Jouvent, E., Zhu, Y., During, M., Dichgans, M., & Chabriat, H. (2012) · Journal of Alzheimer's Disease · doi:10.3233/jad-2012-111784 · Cited by 30 · see citing works
von Willebrand Factor Permeates Small Vessels in CADASIL and Inhibits Smooth Muscle Gene Expression
Zhang, X., Meng, H., Blaivas, M., Rushing, E. J., Moore, B. E., Schwartz, J., Lopes, M. B. S., Worrall, B. B., & Wang, M. M. (2011) · Translational Stroke Research · doi:10.1007/s12975-011-0112-2 · Cited by 30 · see citing works
Lee, J. S., Choi, J. C., Kang, S.-Y., Kang, J.-H., Na, H. R., & Park, J.-K. (2011) · Journal of Clinical Neurology · doi:10.3988/jcn.2011.7.4.210 · Cited by 30 · see citing works
Headache among CADASIL patients with R544C mutation: Prevalence, characteristics, and associations
Choi, J. C., Song, S., Lee, J. S., Kang, S., & Kang, J. (2013) · Cephalalgia · doi:10.1177/0333102413497598 · Cited by 28 · see citing works
“We evaluated the severity of white-matter hyperintensity (WMH) lesions, the involvement of anterior temporal lobe (17), the number of cerebral microbleeds (18), and the number of lacunar infarcts (19).”
BackgroundSu, J., Huang, Q., Ren, S., Xie, F., Zhai, Y., Guan, Y., Liu, J., & Hua, F. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.07.048 · Cited by 27 · see citing works
Su, J., Wang, M., Ban, S., Wang, L., Cheng, X., Hua, F., Tang, Y., Zhou, H., Zhai, Y., Du, X., et al. (2019) · The Journal of Headache and Pain · doi:10.1186/s10194-019-0982-3 · Cited by 23 · see citing works
Genetic Animal Models of Cerebral Vasculopathies
Lee, J. H., Bacskai, B. J., & Ayata, C. (2011) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-394596-9.00002-0 · Cited by 21 · see citing works
Screening for NOTCH3 Gene Mutations Among 151 Consecutive Korean Patients with Acute Ischemic Stroke
Choi, J. C., Lee, K.-H., Song, S., Lee, J. S., Kang, S., & Kang, J. (2011) · Journal of Stroke and Cerebrovascular Diseases · doi:10.1016/j.jstrokecerebrovasdis.2011.10.013 · Cited by 21 · see citing works
CADASIL management or what to do when there is little one can do
Río-Espínola, A. D., Mendióroz, M., Domingues‐Montanari, S., Pozo‐Rosich, P., Solé, E., Fernández‐Morales, J., Fernández‐Cadenas, I., & Montaner, J. (2009) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.9.2.197 · Cited by 21 · see citing works
Vascular Contributions to Cognitive Impairment in Late Life
Chui, H. C., & Gomez, L. A. R. (2017) · Neurologic Clinics · doi:10.1016/j.ncl.2017.01.007 · Cited by 18 · see citing works
Su, J., Ban, S., Wang, M., Hua, F., Wang, L., Cheng, X., Tang, Y., Zhou, H., Zhai, Y., Du, X., et al. (2019) · The Journal of Headache and Pain · doi:10.1186/s10194-019-1052-6 · Cited by 17 · see citing works
Advances in Vascular Cognitive Impairment 2007
Gorelick, P. B., & Bowler, J. V. (2008) · Stroke · doi:10.1161/strokeaha.107.509570 · Cited by 17 · see citing works
Confluent Thalamic Hyperintensities in CADASIL
Camus-Jacqmin, D. M., Hervé, D., Viswanathan, A., Guichard, J., Duering, M., Dichgans, M., & Chabriat, H. (2010) · Cerebrovascular Diseases · doi:10.1159/000319607 · Cited by 17 · see citing works
Moreton, F. C., Cullen, B., Dickie, D. A., Lopez-Gonzalez, R., Santosh, C., Delles, C., & Muir, K. W. (2020) · European Journal of Neurology · doi:10.1111/ene.14534 · Cited by 16 · see citing works
“Magnetic resonance imaging (MRI) markers of cerebral small vessel disease such as lacunes [8] and atrophy [9] have been shown to predict clinical worsening to varying degrees [10].”
BackgroundCADASIL: The Most Common Hereditary Subcortical Vascular Dementia
Kalimo, H., Miao, Q., Tikka, S., Mykkänen, K., Junna, M., Roine, S., Viitanen, M. H., Pöyhönen, M., & Baumann, M. (2008) · Future Neurology · doi:10.2217/14796708.3.6.683 · Cited by 16 · see citing works
Price, C. C., Tanner, J. J., Schmalfuss, I. M., Brumback, B., Heilman, K. M., & Libon, D. J. (2015) · Journal of Alzheimer s Disease · doi:10.3233/jad-150407 · Cited by 15 · see citing works
Cao, L., Guo, Y. C., & Zhu, Z. (2020) · International Journal of Neuroscience · doi:10.1080/00207454.2020.1744597 · Cited by 17 · see citing works
Liu, Y., Wu, Y. F., Xie, S., Luan, X., & Yuan, Y. (2008) · Clinical and Experimental Ophthalmology · doi:10.1111/j.1442-9071.2008.01825.x · Cited by 15 · see citing works
“Cranial MRI reveal punctuate, nodular or confluent white matter hyper-intensities (WMH) that are most evident on T2-weighted MRI and have been considered to reflect ischaemic lesions secondary to small vessel disease.(3,4) Retina is extension of central nerve system.”
BackgroundKarvelas, N., Oh, B. C., Wang, E., Cobigo, Y., Tsuei, T., Fitzsimons, S., Younes, K., Ehrenberg, A. J., Geschwind, M. D., Schwartz, D., et al. (2024) · Brain Communications · doi:10.1093/braincomms/fcae071 · Cited by 16 · see citing works
Tang, S., Jeng, J., Lee, M., & Yip, P. (2009) · PubMed · Cited by 13 · see citing works
Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case.
Hassan, W. A., Udaka, N., Ueda, A., Ando, Y., & Ito, T. (2015) · Europe PMC (PubMed Central) · Cited by 13 · see citing works
Gold, G. (2009) · Monographs in clinical neuroscience/Frontiers of neurology and neuroscience/Monographs in neural sciences · doi:10.1159/000197887 · Cited by 12 · see citing works
Kou, Z., Ye, Y., & Haacke, E. M. (2015) · Topics in Magnetic Resonance Imaging · doi:10.1097/rmr.0000000000000064 · Cited by 11 · see citing works
Recurrent transient global amnesia as presenting symptoms of CADASIL
Pradotto, L., Orsi, L., Mencarelli, M., Caglio, M., Lauro, D., Milesi, A., Blasio, A. D., & Mauro, A. (2016) · Clinical Case Reports · doi:10.1002/ccr3.666 · Cited by 12 · see citing works
“Cognitive impairment in CADASIL is similar to that reported for sporadic subcortical ischemic vascular dementia and is thought to the result of dysfunction within the subcortical/frontal network due to the leukoaraiosis, although a multi-infarction origin based on the accumulation of cerebral infarcts was also propose…”
BackgroundNeuroimagem cerebral com imagem ponderada em susceptibilidade.
Lima, P. B., de Freitas, D. L., Marques, C., & Rio, F. (2012) · Acta Médica Portuguesa · doi:10.20344/amp.1409 · Cited by 11 · see citing works
Monogenetic Stroke Syndromes in Children and Young Adults
Doig, D., Davagnanam, I., Taranath, A., Zlatareva, D., Alwis, A., Siddiqui, A. U., & Mankad, K. (2020) · American Journal of Roentgenology · doi:10.2214/ajr.19.22360 · Cited by 11 · see citing works
Vascular cognitive impairment: prodrome to VaD?
Mayda, A., & DeCarli, C. (2009) · Vascular Cognitive Impairment in Clinical Practice · doi:10.1017/cbo9780511575976.003 · Cited by 7 · see citing works
The Notch Signaling Pathway: A Potential Target for Mental Disorders
Zhang, Q. Y., Zheng, J., Sun, H., Zheng, J., Ma, Y., Ji, Q., Chen, D., Tang, Z., Zhang, J., He, Y., et al. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05034-w · Cited by 9 · see citing works
“Mutant Notch3 impairs vascular function [154], which may have an important correlation with cerebral vascular lesions in this disease, and lacunar infarction is also the main factor leading to cognitive impairment in these patients [155, 156].”
Cognitive Profile of CADASIL Patients with R544C Notch3 Mutation
Song, J.-K., Noh, Y., & Lee, J. S. (2014) · European Neurology · doi:10.1159/000356199 · Cited by 9 · see citing works
Lee, J. S., Ko, K. H., Oh, J.-H., Kim, J., Kang, C., Song, S., Kang, S., Kang, J., Park, J. H., Koh, M. J., et al. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.591879 · Cited by 9 · see citing works
Wiggins, M. E., Jones, J. D., Tanner, J. J., Schmalfuss, I. M., Aalaei‐Andabili, S. H., Heilman, K. M., Libon, D. J., Beaver, T. M., & Price, C. C. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00271 · Cited by 8 · see citing works
Altered Regional Brain Homogeneity of BOLD Signal in CADASIL: A Resting State fMRI Study
Orsolini, S., Marzi, C., Gavazzi, G., Bianchi, A., Salvadori, E., Giannelli, M., Donnini, I., Rinnoci, V., Pescini, F., Pantoni, L., et al. (2020) · Journal of Neuroimaging · doi:10.1111/jon.12821 · Cited by 7 · see citing works
Small Fiber Pathology in CADASIL
Cheng, Y., Chao, C., Chen, C., Yeh, T., Jeng, J., Tang, S., & Hsieh, S. (2022) · Neurology · doi:10.1212/wnl.0000000000200672 · Cited by 7 · see citing works
Chapter 4 Neuroimaging of Cognitive Impairments in Vascular Disease
Perri, C. D., Dalaker, T. O., Beyer, M. K., & Zivadinov, R. (2009) · International review of neurobiology · doi:10.1016/s0074-7742(09)00404-8 · Cited by 4 · see citing works
“, 2005), in CADASIL disease (Liem et al., 2007), as well as in the executive dysfunction of nondemented patients (Carey et al.”
Clinical and MRI Profiles Predicting Clinical Overt Stroke in Patients with CADASIL
Seok, L. J., Chol, C. J., Yoon, K. S., Keun, S. S., Hoon, K. J., Song, J.-K., & Na, H. R. (2012) · Journal of the Korean Neurological Association · Cited by 4 · see citing works
Jacobs, H. I. L., Schoemaker, D., Torrico‐Teave, H., Zuluaga, Y., Velilla-Jiménez, L. M., Ospina, C., Lopera, F. J., Arboleda‐Velásquez, J. F., & Quiroz, Y. T. (2021) · Brain Connectivity · doi:10.1089/brain.2020.0980 · Cited by 4 · see citing works
“In particular, the presence of lacunar infarcts is an important predictor of cognitive dysfunction and disability (Lee et al., 2011; Liem et al., 2007; Viswanathan et al., 2007).”
Wang, M., Li, Y., Song, Y., YingYu, Z., & Zhao, X. (2021) · Acta Radiologica · doi:10.1177/02841851211066583 · Cited by 4 · see citing works
Zhang, M., Xie, B., Gao, J., Mak, H. K., Kwong, A. S. K., Chan, D. C. P., & Cheung, R. T. F. (2019) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2019.06.028 · Cited by 5 · see citing works
Angiogenesis in the Central Nervous System
de Almodóvar, C. R., Zacchigna, S., & Carmeliet, P. (2008) · Springer eBooks · doi:10.1007/978-0-387-71518-6_42 · Cited by 4 · see citing works
Chui, H. C., & Ramirez-Gomez, L. A. (2016) · Wiley eBooks · doi:10.1002/9781118797662.ch4 · Cited by 4 · see citing works
Cavitation of symptomatic acute single small subcortical infarctions
Zhang, X., Ge, Y., Liang, C., & Wang, Y. (2020) · Neurological Sciences · doi:10.1007/s10072-020-04509-z · Cited by 3 · see citing works
Choi, J. C., Lee, J. S., & Kim, K. (2020) · Journal of Medicine and Life Science · doi:10.22730/jmls.2020.17.3.65 · Cited by 3 · see citing works
Bettcher, B. M., Bevan, C. J., & Geschwind, M. D. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800105-9.00041-x · Cited by 3 · see citing works
SQSTM1 gene as a potential genetic modifier of CADASIL phenotype
Almeida, M. R., Silva, A. R., Elias, I., Fernandes, C., Machado, R., Galego, O., & Cordeiro, G. (2020) · Journal of Neurology · doi:10.1007/s00415-020-10308-5 · Cited by 3 · see citing works
Rounding up the usual suspects
Kalaria, R. N. (2007) · Neurology · doi:10.1212/01.wnl.0000271882.58578.61 · Cited by 3 · see citing works
Karvelas, N., Oh, B. C., Wang, E., Cobigo, Y., Tsuei, T., Fitzsimons, S., Ehrenberg, A. J., Geschwind, M. D., Schwartz, D., Kramer, J. H., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.17.553732 · Cited by 3 · see citing works
NOTCH3 Mutations in CADASIL: a multicellular perspective on neurodegeneration
Lee, J. W. L., Ng, A. S. L., Tan, E., & Zeng, L. (2026) · Cell Communication and Signaling · doi:10.1186/s12964-026-02764-9 · Cited by 2 · see citing works
“…of CADASIL is the predominance of subcortical symptoms, including slowed processing speed, executive dysfunction, gait disturbance, mood changes, and apathy [31–33], with comparatively rare cortical manifestations such as aphasia, apraxia, or focal seizures, even in advanced disease [27, 34–36].”
Determination of Blood NOTCH3 Extracellular Domain and Jagged-1 Levels in Healthy Subjects
Kim, H., Jang, B. G., Kim, Y.-J., & Choi, J. C. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810547 · Cited by 2 · see citing works
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
Rumboldt, Z. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9781139030854.023 · Cited by 2 · see citing works
Benisty, S., & Chabriat, H. (2020) · Springer eBooks · doi:10.1007/978-3-030-49586-2_7 · Cited by 2 · see citing works
Onodera, O., Sekine, Y., Kato, T., Koyama, A., Nozaki, H., & Nishizawa, M. (2014) · Neurology and Clinical Neuroscience · doi:10.1111/ncn3.134 · Cited by 1 · see citing works
A Japanese CADASIL kindred with a novel two‐base NOTCH 3 mutation
Suda, S., Okubo, S., Ueda, M., Sowa, K., Abe, A., Aoki, J., Muraga, K., Suzuki, K., Sakamoto, Y., Mizuta, I., et al. (2016) · European Journal of Neurology · doi:10.1111/ene.12977 · Cited by 1 · see citing works
“thermore, lacunar infarct load, but not WMH lesion load, is an important MRI parameter associated with cognitive dysfunction in CADASIL [7].”
BackgroundClinical Correlation of Magnetic Resonance Imaging Features of Cerebral Small Vessel Disease
Liu, D.-T., Liu, Y., Kong, Y.-Q., Zhou, L., & Hu, W. (2019) · World Neurosurgery · doi:10.1016/j.wneu.2019.02.099 · Cited by 1 · see citing works
Dowling, M. M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00100-5 · Cited by 1 · see citing works
Lee, J. S., Ko, K., Oh, J., Choi, J. C., & Kim, J. (2018) · Journal of Medicine and Life Science · doi:10.22730/jmls.2018.15.2.89 · Cited by 1 · see citing works
Impact of Brain MRI Markers on Major and Mild Vascular Cognitive Impairment in CADASIL
Lee, J. S., Koh, M. J., Lee, H. K., & Choi, J. C. (2022) · Journal of the Korean Neurological Association · doi:10.17340/jkna.2022.1.5 · Cited by 1 · see citing works
CADASIL: a genetic model of arteriolar degeneration, white matter injury and dementia in later life
Salloway, S., Brennan-Krohn, T., Correia, S., Mellion, M. L., & DeLaMonte, S. (2009) · Cambridge University Press eBooks · doi:10.1017/cbo9780511581410.022 · Cited by 1 · see citing works
CADASIL: a genetic model of arteriolar degeneration, white matter injury, and dementia in later life
Goldfarb, D., Mellion, M. L., Salloway, S., Brennan-Krohn, T., Correia, S., & DeLaMonte, S. (2016) · Cambridge University Press eBooks · doi:10.1017/9781139924771.021 · Cited by 1 · see citing works
Molecular Genetics of Ischaemic Stroke
Floßmann, E. (2010) · Wiley eBooks · doi:10.1002/9780470015902.a0022411
Dalaker, T. O., Beyer, M. K., Stosic, M., & Zivadinov, R. (2009) · Springer eBooks · doi:10.1007/978-1-4020-9831-4_2
Confluent Thalamic Hyperintensities in CADASIL
de Médecine, F. (2010)
SÍNDROME CADASIL: EPIDEMIOLOGIA, CLÍNICA E
Correia, N. M. F. (2011)
NEUROIMAGEM CEREBRAL Com Imagem Ponderada Em Susceptibilidade
Lima, P. B., Freitas, D., Marques, C., & Rio, F. (2011)
- Authors
- Liem, M. K., van der Grond, J., Haan, J., van den Boom, R., Ferrari, M. D., Knaap, Y. M., Breuning, M. H., van Buchem, M. A., Middelkoop, H. A. M., & Lesnik Oberstein, S. A. J.
- Affiliations
- Leiden University (NL)
- From the Departments of Radiology (M.K.L., J.v.d.G., R.v.d.B., M.A.v.B.), Clinical Genetics (M.H.B., S.A.J.L.O.), Neurology (J.H., M.D.F.), and Neuropsychology (Y.M.K., H.A.M.M.), Leiden University Medical Center, Leiden, The Netherlands; Department of Neurology (J.H.), Rijnland Hospital, Leiderdorp, The Netherlands; Department of Psychology (H.A.M.M.), Neuropsychology unit, Leiden University, The Netherlands.
- Venue
- Stroke
- Published
- 2007-03
- Volume
- 38
- Issue
- 3
- Pages
- 923-928
- ISSN
- 0039-2499 (ISSN-L)
- 1524-4628
- OpenAlex
- W2061620398
- Cited by
- 114
- References
- 35
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 4 · 2021: 2 · 2020: 12 · 2019: 6 · 2018: 4 · 2017: 3 · 2016: 8 · 2015: 5 · 2014: 8 · 2013: 2 · 2012: 8
- FWCI
- 6.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Stroke (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Health Sciences › Medicine › Neurology › Intracerebral and Subarachnoid Hemorrhage Research
- Life Sciences › Neuroscience › Neurology › Neurological Disease Mechanisms and Treatments
- Keywords
- CADASIL, NOTCH3 mutations, lacunar infarction, cognitive decline, white matter hyperintensities, microbleeds
- MeSH terms
- Receptor, Notch3, Adult, Cognition Disorders, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Brain Infarction, CADASIL, Receptors, Notch
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