References
- Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-10. https://doi.org/10.1038/383707a0
- Choi JC. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease. J Clin Neurol 2010;6:1-9. https://doi.org/10.3988/jcn.2010.6.1.1
- Rho NK, Choi SJ, Lee ES. A Case of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) Diagnosed by Skin Biopsy. Korean J Dermatol 2002;40:1136-8.
- Choi JC, Kang SY, Kang JH, Park JK. Intracerebral hemorrhages in CADASIL. Neurology 2006;67:2042-4. https://doi.org/10.1212/01.wnl.0000246601.70918.06
- Choi JC, Lee KH, Song SK, Lee JS, Kang SY, Kang JH. Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke. J Stroke Cerebrovasc Dis 2013;22:608-14. https://doi.org/10.1016/j.jstrokecerebrovasdis.2011.10.013
- Choi JC, Song SK, Lee JS, Kang SY, Kang JH. Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. J Stroke Cerebrovasc Dis 2013;22:126-31. https://doi.org/10.1016/j.jstrokecerebrovasdis.2011.07.002
- Choi JC, Song SK, Lee JS, Kang SY, Kang JH. Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. Cephalalgia 2014;34:22-8. https://doi.org/10.1177/0333102413497598
- Kang SY, Oh JH, Kang JH, Choi JC, Lee JS. Nerve conduction studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neurol 2009;256:1724-7. https://doi.org/10.1007/s00415-009-5191-6
- Lee JS, Choi JC, Kang SY, Kang JH, Lee SH, Kim JH, et al. Olfactory identification deficits in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Eur Neurol 2010;64:280-5. https://doi.org/10.1159/000320942
- Lee JS, Ko K, Oh JH, Park JH, Lee HK, Floriolli D, et al. Cerebral microbleeds, hypertension, and intracerebral hemorrhage in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Front Neurol 2017;8:203. https://doi.org/10.3389/fneur.2017.00203
- Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 2005;76:739-41. https://doi.org/10.1136/jnnp.2004.051847
- Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, et al. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Ann Clin Transl Neurol 2016;3:844-53. https://doi.org/10.1002/acn3.344
- Lee YC, Chung CP, Chang MH, Wang SJ, Liao YC. NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population. Neurology 2020;94:e87-e96. https://doi.org/10.1212/wnl.0000000000008700
- Mizuno T, Mizuta I, Watanabe-Hosomi A, Mukai M, Koizumi T. Clinical and Genetic Aspects of CADASIL. Front Aging Neurosci 2020;12:91. https://doi.org/10.3389/fnagi.2020.00091
- Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol 2009;8:643-53. https://doi.org/10.1016/S1474-4422(09)70127-9
- Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Longterm prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain 2004;127:2533-9. https://doi.org/10.1093/brain/awh282
- Adib-Samii P, Brice G, Martin RJ, Markus HS. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke 2010;41:630-4. https://doi.org/10.1161/strokeaha.109.568402
- Tikka S, Mykkanen K, Ruchoux MM, Bergholm R, Junna M, Poyhonen M, et al. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain 2009;132:933-9. https://doi.org/10.1093/brain/awn364
- Vinciguerra C, Rufa A, Bianchi S, Sperduto A, De Santis M, Malandrini A, et al. Homozygosity and severity of phenotypic presentation in a CADASIL family. Neurol Sci 2014;35:91-3. https://doi.org/10.1007/s10072-013-1580-9
- Tuominen S, Juvonen V, Amberla K, Jolma T, Rinne JO, Tuisku S, et al. Phenotype of a homozygous cadasil patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. Stroke 2001;32:1767-74. https://doi.org/10.1161/01.str.32.8.1767
- Soong B-W, Liao Y-C, Tu P-H, Tsai P-C, Lee IH, Chung C-P, et al. A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. J Chin Med Assoc 2013;76:319-24. https://doi.org/10.1016/j.jcma.2013.03.002
- Ragno M, Pianese L, Morroni M, Cacchio G, Manca A, Di Marzio F, et al. "CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in agematched heterozygous patients with the same G528C NOTCH3 mutation. Neurol Sci 2013;34:1947-53. https://doi.org/10.1007/s10072-013-1418-5
- Liem MK, Lesnik Oberstein SAJ, Vollebregt MJ, Middelkoop HAM, van der Grond J, Helderman-van den Enden ATJM. Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms. J Neurol 2008;255:1978-80. https://doi.org/10.1007/s00415-009-0036-x
- Anamnart C, Songsaeng D, Chanprasert S. A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: a case report. BMC Neurology 2019;19:106. https://doi.org/10.1186/s12883-019-1342-2
- Lee JS, Ko K, Oh JH, Park JH, Lee HK. Phenotypic features of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy subjects with R544C mutation. Dement Neurocogn Disord 2016;15:15-9. https://doi.org/10.12779/dnd.2016.15.1.15
- Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, et al. The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. Genet Med 2019;21:676-82. https://doi.org/10.1038/s41436-018-0088-3
- Lee JS, Ko KH, Oh J-H, Kim J-G, Kang C-H, Song S-K, et al. Apolipoprotein E ε4 Is Associated with the development of incident dementia in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients with p.Arg-544Cys mutation. Front Aging Neurosci. 2020;12.
- Pantoni L. Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges. Lancet Neurol 2010;9:689-701. https://doi.org/10.1016/S1474-4422(10)70104-6
- Liem MK, Lesnik Oberstein SA, Haan J, van der Neut IL, Ferrari MD, van Buchem MA, et al. MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study. Neurology 2009;72:143-8. https://doi.org/10.1212/01.wnl.0000339038.65508.96
- Liem MK, van der Grond J, Haan J, van den Boom R, Ferrari MD, Knaap YM, et al. Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL. Stroke 2007;38:923-8. https://doi.org/10.1161/01.str.0000257968.24015.bf
- Viswanathan A, Gschwendtner A, Guichard JP, Buffon F, Cumurciuc R, O'Sullivan M, et al. Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL. Neurology 2007;69:172-9. https://doi.org/10.1212/01.wnl.0000265221.05610.70
- Lee JS, Choi JC, Kang SY, Kang JH, Na HR, Park JK. Effects of lacunar infarctions on cognitive impairment in patients with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Clin Neurol 2011;7:210-4. https://doi.org/10.3988/jcn.2011.7.4.210
- Lee JS, Kang CH, Park SQ, Choi HA, Sim KB. Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation. PLoS One 2015;10:e0118163. https://doi.org/10.1371/journal.pone.0118163
- Primo V, Graham M, Bigger-Allen AA, Chick JM, Ospina C, Quiroz YT, et al. Blood biomarkers in a mouse model of CADASIL. Brain Res 2016;1644:118-26. https://doi.org/10.1016/j.brainres.2016.05.008
- Duering M, Konieczny MJ, Tiedt S, Baykara E, Tuladhar AM, Leijsen EV, et al. Serum neurofilament light chain levels are related to small vessel disease burden. J Stroke 2018;20:228-38. https://doi.org/10.5853/jos.2017.02565
- Gravesteijn G, Rutten JW, Verberk IMW, Bohringer S, Liem MK, van der Grond J, et al. Serum Neurofilament light correlates with CADASIL disease severity and survival. Ann Clin Transl Neurol 2019;6:46-56. https://doi.org/10.1002/acn3.678
- Teunissen CE, Khalil M. Neurofilaments as biomarkers in multiple sclerosis. Mult Scler 2012;18:552-6. https://doi.org/10.1177/1352458512443092
- Boucher J, Gridley T, Liaw L. Molecular pathways of notch signaling in vascular smooth muscle cells. Front Physiol 2012;3:81.
- Parks AL, Klueg KM, Stout JR, Muskavitch MA. Ligand endocytosis drives receptor dissociation and activation in the Notch pathway. Development 2000;127:1373-85. https://doi.org/10.1242/dev.127.7.1373