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.
Article
CAS
PubMed
Google Scholar
Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry. 2005;76(5):739–41.
Article
CAS
PubMed
PubMed Central
Google Scholar
Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. The minimum prevalence of CADASIL in northeast England. Neurology. 2012;78(13):1025–7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Moreton FC, Razvi SS, Davidson R, Muir KW. Changing clinical patterns and increasing prevalence in CADASIL. Acta Neurol Scand. 2014;130(3):197–203.
Article
CAS
PubMed
Google Scholar
Bianchi S, Zicari E, Carluccio A, Di Donato I, Pescini F, Nannucci S, et al. CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol. 2015;262(1):134–41.
Article
CAS
PubMed
Google Scholar
Guey S, Mawet J, Hervé D, Duering M, Godin O, Jouvent E, et al. Prevalence and characteristics of migraine in CADASIL. Cephalalgia. 2016;36(11):1038–47.
Article
Google Scholar
Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 1999;30(6):1230–3.
Article
CAS
PubMed
Google Scholar
Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009;8(7):643–53.
Article
PubMed
Google Scholar
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(4):630–4.
Article
PubMed
Google Scholar
Pescini F, Nannucci S, Bartaccini B, Salvadori E, Bianchi S, Ragno M, et al. The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis. Stroke. 2012;43(11):2871–6.
Article
PubMed
Google Scholar
Kim Y, Choi EJ, Choi CG, Kim G, Choi JH, Yoo HW, et al. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. Neurology. 2006;66(10):1511–6.
Article
CAS
PubMed
Google Scholar
Tan RY, Markus H. CADASIL: migraine, encephalopathy, stroke and their inter-relationships. PLoS One. 2016;11(6):e0157613.
Article
PubMed
PubMed Central
CAS
Google Scholar
Eikermann-Haerter K, Yuzawa I, Dilekoz E, Joutel A, Moskowitz MA, Ayata C. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression. Ann Neurol. 2011;69(2):413–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Liem MK, Oberstein SA, van der Grond J, Ferrari MD, Haan J. CADASIL and migraine: a narrative review. Cephalalgia. 2010;30(11):1284–9.
Article
PubMed
Google Scholar
Dichgans M, Mayer M, Uttner I, Brűning R, Műller-Hőcker J, Rungger G, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44:731–9.
Article
CAS
PubMed
Google Scholar
Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004;127(Pt11):2533–9.
Article
PubMed
Google Scholar
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(5):608–14.
Article
PubMed
Google Scholar
Yin X, Wu D, Wan J, Yan S, Lou M, Zhao G, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China. Int J Neurosci. 2015;125(8):585–92.
Article
CAS
PubMed
Google Scholar
Kang HG, Kim JS. Intracranial arterial disease in CADASIL patients. J Neurol Sci. 2015;359(1-2):347–50.
Article
PubMed
Google Scholar
Schon F, Martin RJ, Prevett M, Clough C, Enevoldson TP, Markus HS. “CADASIL coma”: an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiat. 2003;74(2):249–52.
Article
CAS
PubMed
PubMed Central
Google Scholar
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(11):2078–85.
Article
PubMed
Google Scholar
Charlton RA, Morris RG, Nitkunan A, Markus HS. The cognitive profiles of CADASIL and sporadic small vessel disease. Neurology. 2006;66(10):1523–6.
Article
CAS
PubMed
Google Scholar
De Guio F, Reyes S, Vignaud A, Duering M, Ropele S, Duchesnay E, et al. In vivo high-resolution 7 Tesla MRI shows early and diffuse cortical alterations in CADASIL. PLoS One. 2014;9(8):e106311.
Article
PubMed
PubMed Central
Google Scholar
Jouvent E, Reyes S, De Guio F, Chabriat H. Reaction time is a marker of early cognitive and behavioural alterations in pure cerebral small vessel disease. J Alzheimer Dis. 2015;47(2):413–9.
Article
CAS
Google Scholar
Reyes S, Viswanathan A, Godin O, Dufouil C, Benisty S, Hernandez K, et al. Apathy: a major symptom in CADASIL. Neurology. 2009;72(10):905–10.
Article
CAS
PubMed
Google Scholar
Brookes RL, Hollocks MJ, Tan RY, Morris RG, Markus HS. Brief screening of vascular cognitive impairment in patients with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy without dementia. Stroke. 2016;47(10):2482–7.
Article
PubMed
PubMed Central
Google Scholar
Jouvent E, Duchesnay E, Hadj-Selem F, De Guio F, Mangin JF, Hervé D, et al. Prediction of 3-year clinical course in CADASIL. Neurology. 2016;87(17):1787–95.
Article
PubMed
Google Scholar
Romàn GC, Erkinjuntti T, Wallin A, Pantoni L, Chui HC. Subcortical ischaemic vascular dementia. Lancet Neurol. 2002;1(7):426–36.
Article
PubMed
Google Scholar
Righart R, Duering M, Gonik M, Jouvent E, Reyes S, Hervé D, et al. Impact of regional cortical and subcortical changes on processing speed in cerebral small vessel disease. Neuroimage Clin. 2013;2:854–61.
Article
PubMed
PubMed Central
Google Scholar
Jouvent E, Poupon C, Gray F, Paquet C, Mangin JF, Le Bihan D, et al. Intracortical infarcts in small vessel disease: a combined 7-T postmortem MRI and neuropathological case study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2011;42(3):e27–30.
Article
PubMed
Google Scholar
Duering M, Righart R, Csanadi E, Jouvent E, Hervè D, Chabriat H, et al. Incident subcortical infarcts induce focal thinning in connected cortical regions. Neurology. 2012;79(20):2025–8.
Article
PubMed
Google Scholar
Taillia H, Chabriat H, Kurtz A, Verin M, Levy C, Vahedi K, et al. Cognitive alterations in non-demented CADASIL patients. Cerebrovasc Dis. 1998;8(2):97–101.
Article
CAS
PubMed
Google Scholar
Amberla K, Wäljas M, Tuominen S, Almkvist O, Pőyhőnen M, Tuisku S, et al. Insidious cognitive decline in CADASIL. Stroke. 2004;35(7):1598–602.
Article
PubMed
Google Scholar
Jouvent E, Mangin JF, Duchesnay E, Porcher R, Düring M, Mewald Y, et al. Longitudinal changes of cortical morphology in CADASIL. Neurobiol Aging. 2012;33(5):1002. e29–36.
Article
PubMed
Google Scholar
Ehret F, Vogler S, Pojar S, Elliott DA, Bradke F, Steiner B, et al. Mouse model of CADASIL reveals novel insights into Notch3 function in adult hippocampal neurogenesis. Neurobiol Dis. 2015;75:131–41.
Article
CAS
PubMed
Google Scholar
Valenti R, Poggesi A, Pescini F, Inzitari D, Pantoni L. Psychiatric disturbances in CADASIL: a brief review. Acta Neurol Scand. 2008;118(5):291–5.
Article
CAS
PubMed
Google Scholar
Valenti R, Pescini F, Antonini S, Castellini G, Poggesi A, Bianchi S, Inzitari D, Pallanti S, Pantoni L. Major depression and bipolar disorders in CADASIL: a study using the DSM-IV semi-structured interview. Acta Neurol Scand. 2011;124(6):390–5.
Article
CAS
PubMed
Google Scholar
Noh SM, Chung SJ, Kim KK, Kang DW, Lim YM, Kwon SU, et al. Emotional disturbance in CADASIL: its impact on quality of life and caregiver burden. Cerebrovasc Dis. 2014;37(3):188–94.
Article
PubMed
Google Scholar
Pescini F, Bianchi S, Salvadori E, Poggesi A, Dotti MT, Federico A, et al. A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient. J Neurol Sci. 2008;267(1-2):170–3.
Article
CAS
PubMed
Google Scholar
Rufa A, De Stefano N, Dotti MT, Bianchi S, Sicurelli F, Stromillo ML, et al. Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol. 2004;61(4):577–80.
Article
PubMed
Google Scholar
Rufa A, Pretegiani E, Frezzotti P, De Stefano N, Cevenini G, Dotti MT, et al. Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study. Cerebrovasc Dis. 2011;31(1):77–82.
Article
PubMed
Google Scholar
Pretegiani E, Rosini F, Dotti MT, Bianchi S, Federico A, Rufa A. Visual system involvement in CADASIL. J Stroke Cerebrovasc Dis. 2013;22(8):1377–84.
Article
PubMed
Google Scholar
Singhal S, Bevan S, Barrick T, Rich P, Markus HS. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain. 2004;127(Pt 9):2031–8.
Article
PubMed
Google Scholar
Ciolli L, Pescini F, Salvadori E, Del Bene A, Pracucci G, Poggesi A, et al. Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from the MIcrovascular LEukoencephalopathy Study (MILES). Eur J Neurol. 2014;21:65–71.
Article
CAS
PubMed
Google Scholar
Hervè D, Godin O, Dufouil C, Viswanathan A, Jouvent E, Pachaï C, et al. Three-dimensional MRI analysis of individual volume of lacunes in CADASIL. Stroke. 2009;40(1):124–8.
Article
PubMed
Google Scholar
Chabriat H, Hervé D, Duering M, Godin O, Jouvent E, Opherk C, et al. Predictors of clinical worsening in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prospective cohort study. Stroke. 2016;47(1):4–11.
Article
PubMed
Google Scholar
Opherk C, Peters N, Holtmannspötter M, Gschwendtner A, Müller-Myhsok B, Dichgans M. Heritability of MRI lesions volume in CADASIL: evidence for genetic modifiers. Stroke. 2006;37(11):2684–9.
Article
PubMed
Google Scholar
Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Hervé D, et al. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke. 2014;45(4):968–72.
Article
PubMed
Google Scholar
Gesierich B, Opherk C, Rosand J, Gonik M, Malik R, Jouvent E, et al. APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL. J Cereb Blood Flow Met. 2016;36(1):199–203a.
Article
CAS
Google Scholar
Gunda B, Hervé D, Godin O, Bruno M, Reyes S, Alili N, et al. Effects of gender on the phenotype of CADASIL. Stroke. 2012;43(1):137–41.
Article
PubMed
Google Scholar
Pescini F, Donnini I, Cesari F, Nannucci S, Valenti R, Rinnoci V, et al. Circulating biomarkers in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients. J Stroke Cerebrovasc Dis. 2016. doi:10.1016/j.jstrokecerebrovasdis.2016.10.027. Ahead of print.
Lesnik Oberstein SA, Jukema JW, Van Duinen SG, Macfarlane PW, van Houwelingen HC, Breuning MH, Ferrari MD, et al. Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Medicine (Baltimore). 2003;82(4):251–6.
Google Scholar
Cumurciuc R, Henry P, Gobron C, Vicaut E, Bousser MG, Chabriat H, et al. Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study. Stroke. 2006;37(4):1100–2.
Article
PubMed
Google Scholar
Rufa A, Guideri F, Acampa M, Cevenini G, Bianchi S, De Stefano N, et al. Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke. 2007;38(2):276–80.
Article
PubMed
Google Scholar
Piccirillo G, Magrì D, Mitra M, Rufa A, Zicari E, Stromillo ML, et al. Increased QT variability in cerebral autosomal dominant artieriopathy with subcortical infarcts and leukoencephalopathy. Eur J Neurol. 2008;15(11):1216–21.
Article
CAS
PubMed
Google Scholar
Rufa A, Dotti MT, Franchi M, Stromillo ML, Cevenini G, Bianchi S, et al. Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2005;36(12):2554–8.
Article
PubMed
Google Scholar
Zicari E, Tassi R, Stromillo ML, Pellegrini M, Bianchi S, Cevenini G, et al. Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings. Stroke. 2008;39(7):2155–7.
Article
PubMed
Google Scholar
Mazzucco S, Anzola GP, Ferrarini M, Taioli F, Olivato S, Burlina AP, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. Eur Neurol. 2008;61(1):46–9.
Article
PubMed
Google Scholar
Singhal S, Rich P, Markus HS. The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features. AJNR Am J Neuroradiol. 2005;26(10):2481–7.
PubMed
Google Scholar
Auer DP, Pütz B, Gössl C, Elbel G, Gasser T, Dichgans M. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametrical group comparison. Radiology. 2001;218(2):443–51.
Article
CAS
PubMed
Google Scholar
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(5):628–34.
Lee YC, Liu CS, Chang MH, Lin KP, Fuh JL, Lu YC, et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol. 2009;256(2):249–55.
Duering M, Csanadi E, Gesierich B, Jouvent E, Hervé D, Seiler S, et al. Incident lacunes preferentially localize to the edge of white matter hyperintensities: insight into the pathophysiology of cerebral small vessel disease. Brain. 2013;136(Pt 9):2717–26.
Article
PubMed
Google Scholar
Lesnik Oberstein SA, van den Boom R, van Buchem MA, van Houwelingen HC, Bakker E, Vollebregt E, et al. Cerebral microbleeds in CADASIL. Neurology. 2001;57(6):1066–70.
Article
CAS
PubMed
Google Scholar
Dichgans M, Holtmannspötter M, Herzog J, Peters N, Bergmann M, Yousry TA. Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. Stroke. 2002;33(1):67–71.
Article
PubMed
Google Scholar
Rinnoci V, Nannucci S, Valenti R, Donnini I, Bianchi S, Pescini F, et al. Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. J Neurol Sci. 2013;330:45–51.
Article
PubMed
Google Scholar
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(2):126–31.
Stromillo ML, Dotti MT, Battaglini M, Mortilla M, Bianchi S, Plewnia K, et al. Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. J Neurol Neurosurg Psychiat. 2009;80(1):41–7.
Article
CAS
PubMed
Google Scholar
Viswanathan A, Godin O, Jouvent E, O’Sullivan M, Gschwendtner A, Peters N, et al. Impact of MRI markers in subcortical vascular dementia: a multi-modal analysis in CADASIL. Neurobiol Aging. 2010;31(9):1629–36.
Article
PubMed
Google Scholar
Duering M, Zieren N, Hervé D, Jouvent E, Reyes S, Peters N, et al. Strategic role of frontal white matter tracts in vascular cognitive impairment: a voxel-based lesion-symptom mapping study in CADASIL. Brain. 2011;134(Pt 8):2366–75.
Article
PubMed
Google Scholar
De Guio F, Mangin JF, Duering M, Ropele S, Chabriat H, Jouvent E. White matter edema at the early stage of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2015;46(1):258–61.
Article
PubMed
Google Scholar
Cognat E, Cleophax S, Domenga-Denier V, Joutel A. Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model. Acta Neuropathol Commun. 2014;2:49.
Article
PubMed
PubMed Central
Google Scholar
Rossi Espagnet MC, Romano A, Carducci F, Calabria LF, Fiorillo M, Orzi F, et al. Grey matter volume alterations in CADASIL: a voxel-based morphometry study. J Headache Pain. 2012;13(3):231–8.
Article
PubMed
PubMed Central
Google Scholar
Lambert C, Sam Narean J, Benjamin P, Zeestraten E, Barrick TR, Markus HS. Characterising the grey matter correlates of leukoaraiosis in cerebral small vessel disease. Neuroimage Clin. 2015;9:194–205.
Article
PubMed
PubMed Central
Google Scholar
Mascalchi M, Pantoni L, Giannelli M, Valenti R, Bianchi A, Pracucci G, et al. Diffusion tensor imaging to map brain microstructural changes in CADASIL. J Neuroimaging. 2016. doi:10.1111/jon.12374.Aheadofprint.
Google Scholar
Baykara E, Gesierich B, Adam R, Tuladhar AM, Biesbroek JM, Koek HL, et al. A novel imaging marker for small vessel disease based on skeletonization of white matter tracts and diffusion histograms. Ann Neurol. 2016;80(4):581–92.
Article
PubMed
Google Scholar
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(10):1584–90.
Article
PubMed
Google Scholar
Molko N, Pappata S, Mangin JF, Poupon F, LeBihan D, Bousser MG, et al. Monitoring disease progression in CADASIL with diffusion magnetic resonance imaging: a study with whole brain histogram analysis. Stroke. 2002;33(12):2902–8.
Article
PubMed
Google Scholar
Holtmannspötter M, Peters N, Opherk C, Martin D, Herzog J, Brückmann H, et al. Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study. Stroke. 2005;36(12):2559–65.
Article
PubMed
Google Scholar
Gunda B, Porcher R, Duering M, Guichard JP, Mawet J, Jouvent E, et al. ADC histograms from routine DWI for longitudinal studies in cerebral small vessel disease: a field study in CADASIL. PLoS One. 2014;9(5):e97173.
Article
PubMed
PubMed Central
CAS
Google Scholar
Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke. 1994;25(11):2291–2.
Article
CAS
PubMed
Google Scholar
Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, et al. Diagnostic strategies in CADASIL. Neurology. 2002;59(8):1134–8.
Article
CAS
PubMed
Google Scholar
Malandrini A, Gaudiano C, Gambelli S, Berti G, Serni G, Bianchi S, et al. Diagnostic value of ultrastructural skin biopsy studies in CADASIL. Neurology. 2007;68(17):1430–2.
Article
CAS
PubMed
Google Scholar
Morroni M, Marzioni D, Ragno M, Di Bella P, Cartechini E, Pianese L, et al. Role of electron microscopy in the diagnosis of CADASIL syndrome: a study of 32 patients. PLoS One. 2013;8(6):e65482.
Article
CAS
PubMed
PubMed Central
Google Scholar
Joutel A, Andreux F, Gaulis S, Domenga V, Cecillon M, Battail N, et al. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest. 2000;105(5):597–605.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ishiko A, Shimizu A, Nagata E, Takahashi K, Tabira T, Suzuki N. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. Acta Neuropathol. 2006;112(3):333–9.
Article
CAS
PubMed
Google Scholar
Tikka S, Mykkänen K, Ruchoux MM, Bergholm R, Junna M, Pöyhönen M, et al. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain. 2009;132(Pt 4):933–9.
PubMed
PubMed Central
Google Scholar
Arboleda-Velasquez JF, Manent J, Lee JH, Tikka S, Ospina C, Vanderburg CR, et al. Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease. Proc Natl Acad Sci U S A. 2011;108(21):E128–35.
Article
PubMed
PubMed Central
Google Scholar
Lesnik Oberstein SA, van Duinen SG, van den Boom R, Maat-Schieman ML, van Buchem MA, van Houwelingen HC, et al. Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. Acta Neuropathol. 2003;106(2):107–11.
Article
CAS
PubMed
Google Scholar
Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet. 2001;358(9298):2049–51.
Article
CAS
PubMed
Google Scholar
Craggs LJ, Yamamoto Y, Deramecourt V, Kalaria RN. Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brain. Brain Pathol. 2014;24(5):495–509.
Article
PubMed
PubMed Central
Google Scholar
Craggs LJ, Yamamoto Y, Ihara M, Fenwick R, Burke M, Oakley AE, et al. White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Neuropathol Appl Neurobiol. 2014;40(5):591–602.
Article
CAS
PubMed
Google Scholar
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a Mendelian condition causing stroke and vascular dementia. Ann N Y Acad Sci. 1997;826:213–7.
Article
CAS
PubMed
Google Scholar
Escary JL, Cécillon M, Maciazek J, Lathrop M, Tournier-Lasserve E, Joutel A. Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with high G-C content. Hum Mutat. 2000;16(6):518–26.
Article
CAS
PubMed
Google Scholar
Larsson C, Lardelli M, White, Lendhal U. The human NOTCH1,2, and 3 genes are located at chromosome position 9q34, 1012-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation. Genomics. 1994;24(2):253–8.
Article
CAS
PubMed
Google Scholar
Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350:1511–5.
Article
CAS
PubMed
Google Scholar
Federico A, Bianchi S, Dotti MT. The spectrum of mutations for CADASIL diagnosis. Neurol Sci. 2005;26(2):117–24.
Article
CAS
PubMed
Google Scholar
Dotti MT, Federico A, Mazzei R, Bianchi S, Scali O, Conforti FL, et al. The spectrum of Notch3 mutations in 28 Italian CADASIL families. J Neurol Neurosurg Psychiatry. 2005;76(5):736–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, et al. Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. Hum Mutat. 2013;34(11):1486–9.
Article
CAS
PubMed
Google Scholar
Finsterer J. Neuromuscular implications in CADASIL. Cerebrovasc Dis. 2007;24(5):401–4.
Article
CAS
PubMed
Google Scholar
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(8):767–74.
Article
Google Scholar
Liem MK, Lesnik Oberstein SA, Vollebregt MJ, Middelkoop HA, van der Grond J, Helderman-van den Enden AT. Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report. J Neurol. 2008;255(12):1978–80.
Article
PubMed
Google Scholar
Soong BW, Liao YC, Tu PH, Tsai PC, Lee IH, Chung CP, 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(6):319–24.
Article
CAS
PubMed
Google Scholar
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(1):91–3.
Article
PubMed
Google Scholar
Abou Al-Shaar H, Qadi N, Al-Hamed MH, Meyer BF, Bohlega S. Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family. J Neurol Sci. 2016;367:239–43.
Article
CAS
PubMed
Google Scholar
Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn. 2014;14:593–603.
Article
CAS
PubMed
Google Scholar
Bianchi S, Dotti MT, Gallus GN, D’Eramo C, Di Donato I, Bernardi L, et al. First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. Neurobiol Aging. 2013;34(9):2234. e9–12.
Article
PubMed
CAS
Google Scholar
Nakamura K, Ago T, Tsuchimoto A, Noda N, Nakamura A, Ninomiya T, et al. A CADASIL-like case with a novel non cysteine mutation of the NOTCH3 gene and granular deposits in the renal arterioles. Case Rep Neurol Med. 2015;2015:431461.
PubMed
PubMed Central
Google Scholar
Ueda A, Ueda M, Nagatoshi A, Hirano T, Ito T, Arai N, et al. Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. J Neurol. 2015;262(8):1828–36.
Article
CAS
PubMed
Google Scholar
Wollenweber FA, Hanecker P, Bayer-Karpinska A, Malik R, Bäzner H, Moreton F, et al. Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro. Stroke. 2015;46(3):786–92.
Article
CAS
PubMed
Google Scholar
Moccia M, Mosca L, Erro R, Cervasio M, Allocca R, Vitale C, et al. Hypomorphic NOTCH3 mutation in a family with CADASIL features. Neurobiol Aging. 2015;36(1):547. e5–11.
Article
PubMed
CAS
Google Scholar
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, et al. Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy. EMBO Mol Med. 2015;7(6):848–58.
Article
CAS
PubMed
PubMed Central
Google Scholar
Fouillade C, Chabriat H, Riant F, Mine M, Arnoud M, Magy L, et al. Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. Hum Mutat. 2008;29(3):452.
Article
PubMed
Google Scholar
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Med Genet. 2013;92(6):1001–7.
CAS
Google Scholar
Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, et al. Truncating Mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet Part A. 2015;167(2):271–81.
Article
CAS
Google Scholar
Reyes S, Kurtz A, Hervé D, Tournier-Lasserve E, Chabriat H. Presymptomatic genetic testing in CADASIL. J Neurol. 2012;259(10):2131–6.
Article
CAS
PubMed
Google Scholar
Goldman JS. Genetic testing and counseling in the diagnosis and management of young-onset dementias. Psychiatr Clin North Am. 2015;38(2):295–308.
Article
PubMed
Google Scholar
Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, et al. The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. Prenat Diagn. 2005;25(11):1057–8.
Article
CAS
PubMed
Google Scholar
Konialis C, Hagnefelt B, Kokkali G, Pantos C, Pangalos C. Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Prenat Diagn. 2007;27(11):1079–83.
Article
CAS
PubMed
Google Scholar
Rutten JW, Dauwerse HG, Peters DJ, Goldfarb A, Venselaar H, Haffner C, et al. Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. Brain. 2016;139(Pt 4):1123–35.
Article
PubMed
Google Scholar
Keverne JS, Low WC, Ziabreva I, Court JA, Oakley AE, Kalaria RN. Cholinergic neuronal deficits in CADASIL. Stroke. 2007;38(1):188–91.
Article
CAS
PubMed
Google Scholar
Shobha N, Fang J, Hill MD. Do lacunar strokes benefit from thrombolysis? Evidence from the Registry of the Canadian Stroke Network. Int J Stroke. 2013;8(Suppl A100):45–9.
Article
PubMed
Google Scholar
Dichgans M, Markus HS, Salloway S, Verkkoniemi A, Moline M, Wang Q, et al. Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. Lancet Neurol. 2008;7(4):310–8.
Article
CAS
PubMed
Google Scholar
Joshi S, Yau W, Kermode A. CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags. J Clin Neurosci. 2017;35:75–7. doi:10.1016/j.jocn.2016.09.025.
Article
PubMed
Google Scholar
Carone DA. CADASIL and multiple sclerosis: A case report of prolonged misdiagnosis. Appl Neuropsychol Adult. 2016;11:1–4.
Yanagawa S, Ito N, Arima K, Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology. 2002;58(5):817–20.
Article
PubMed
Google Scholar
Perneczky R, Tene O, Attems J, Giannakopoulos P, Ikram MA, Federico A, et al. Is the time ripe for new diagnostic criteria of cognitive impairment due to cerebrovascular disease? Consensus report of the International Congress on Vascular Dementia working group. BMC Med. 2016;14:162.
Article
PubMed
PubMed Central
Google Scholar
Plastino M, Messina D, Cristiano D, Lombardo G, Bosco D. Pathological gambling associated with CADASIL: an unusual manifestation. Neurol Sci. 2015;36(10):1963–5.
Article
PubMed
Google Scholar
Haddad N, Ikard C, Hiatt K, Shanmugam V, Schmidley J. Recurrent status epilepticus as the primary neurological manifestation of CADASIL: a case report. Epilepsy Behav Case Rep. 2015;3:26–9.
Article
PubMed
PubMed Central
Google Scholar
Lågas PA, Juvonen V. Schizophrenia in a patient with cerebral autosomally dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL disease). Nord J Psychiatry. 2001;55(1):41–2.
Article
PubMed
Google Scholar
Ho CS, Mondry A. CADASIL presenting as schizophreniform organic psychosis. Gen Hosp Psychiatry. 2015;37(3):273. e11–3.
Article
PubMed
Google Scholar
Sicurelli F, Dotti MT, De Stefano N, Malandrini A, Mondelli M, Bianchi S, et al. Peripheral neuropathy in CADASIL. J Neurol. 2005;252(10):1206–9.
Article
PubMed
Google Scholar
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(10):1724–7.
Article
PubMed
Google Scholar
Lackovic V, Bajcetic M, Lackovic M, Novakovic I, Labudović Borović M, Pavlovic A, et al. Skin and sural nerve biopsies: ultrastructural findings in the first genetically confirmed cases of CADASIL in Serbia. Ultrastruct Pathol. 2012;36(5):325–35.
Article
PubMed
Google Scholar
de la Peña P, Bornstein B, del Hoyo P, Fernández-Moreno MA, Martín MA, Campos Y, et al. Mitochondrial dysfunction associated with a mutation in the Notch3 gene in aCADASIL family. Neurology. 2001;57(7):1235–8.
Article
PubMed
Google Scholar
Malandrini A, Albani F, Palmeri S, Fattapposta F, Gambelli S, Berti G, et al. Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. Neurology. 2002;59(4):617–20.
Article
CAS
PubMed
Google Scholar
Dotti MT, De Stefano N, Bianchi S, Malandrini A, Battisti C, Cardaioli E, et al. A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. Arch Neurol. 2004;61(6):942–5.
Article
PubMed
Google Scholar
Viitanen M, Sundström E, Baumann M, Poyhonen M, Tikka S, Behbahani H. Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells. Exp Cell Res. 2013;319(3):134–43.
Article
CAS
PubMed
Google Scholar
Ragno M, Pianese L, Morroni M, Cacchiò G, Manca A, Di Marzio F, et al. “CADASIL coma” in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation. Neurol Sci. 2013;34(11):1947–53.
Article
PubMed
Google Scholar
Hartley J, Westmacott R, Decker J, Shroff M, Yoon G. Childhood-onset CADASIL: clinical, imaging, and neurocognitive features. J Child Neurol. 2010;25(5):623–27.
Article
PubMed
Google Scholar
Cleves C, Friedman NR, Rothner AD, Hussain MS. Genetically confirmed CADASIL in a pediatric patient. Pediatrics. 2010;26(6):e1603–7.
Article
Google Scholar
Kumar SK, Mahr G. CADASIL presenting as bipolar disorder. Psychosomatics. 1997;38(4):397–8.
Article
CAS
PubMed
Google Scholar
Collongues N, Derache N, Blanc F, Labauge P, de Seze J, Defer G. Inflammatory-like presentation of CADASIL: a diagnostic challenge. BMC Neurol. 2012;12:78.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rufa A, Cerase A, Monti L, Battisti C, Forte F, Federico A, et al. Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL). J Neurol Sci. 2008;271(1-2):211–3.
Article
CAS
PubMed
Google Scholar
Bentley P, Wang T, Malik O, Nicholas R, Ban M, Sawcer S, et al. CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. J Neurol Neurosurg Psychiat. 2011;82(8):855–60.
Article
PubMed
Google Scholar
Pinto WB, Souza PV, Oliveira A. Longitudinally extensive transverse myelopathy in a patient with CADASIL. Arq Neuropsiquiatr. 2015;73(9):812.
Article
PubMed
Google Scholar
Sathe S, DePeralta E, Pastores G, Kolodny EH. Acute confusional migraine may be a presenting feature of CADASIL. Headache. 2009;49(4):590–6.
Article
PubMed
Google Scholar
Monteiro C, Barros J, Taipa R, Pereira-Monteiro J. Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL. Cephalalgia. 2012;32(3):255–7.
Article
PubMed
Google Scholar
Pantoni L, Pescini F, Inzitari D, Dotti MT. Postpartum psychiatric disturbances as an unrecognized onset of CADASIL. Acta Psychiatric Scand. 2005;112(3):241. Author reply 242.
Article
Google Scholar
Ragno M, Berbellini A, Cacchiò G, Manca A, Di Marzio F, Pianese L, et al. Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation. Stroke. 2013;44(4):1147–9.
Article
PubMed
Google Scholar
Pradotto L, Orsi L, Mencarelli M, Caglio M, Lauro D, Milesi A, et al. Recurrent transient global amnesia as presenting symptoms of CADASIL. Clin Case Rep. 2016;4(11):1045–8.
Article
PubMed
PubMed Central
Google Scholar
Weller M, Dichgans J, Klockgether T. Acetazolamide-responsive migraine in CADASIL. Neurology. 1998;50:1505.
Article
CAS
PubMed
Google Scholar
Forteza AM, Brozman B, Rabinstein AA, Romano JG, Bradley WG. Acetazolamide for the treatment of migraine with aura in CADASIL. Neurology. 2001;57:2144–5.
Article
CAS
PubMed
Google Scholar
Donnini I, Nannucci S, Valenti R, Pescini F, Bianchi S, Inzitari D, et al. Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience. J Headache Pain. 2012;13(4):299–302.
Article
CAS
PubMed
PubMed Central
Google Scholar
Martikainen MH, Roine S. Rapid improvement of a complex migrainous episode with sodium valproate in a patient with CADASIL. J Headache Pain. 2012;13:95–7.
Article
PubMed
Google Scholar
Chabriat H, Pappata S, Ostergaard L, Clark CA, Pachot-Clouard M, Vahedi K, et al. Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. Stroke. 2000;31:1904–12.
Article
CAS
PubMed
Google Scholar
Huang L, Yang Q, Zhang L, Chen X, Huang Q, Wang H. Acetazolamide improves cerebral hemodynamics in CADASIL. J Neurol Sci. 2010;292:77–80.
Article
CAS
PubMed
Google Scholar
Park SA, Yang CY, Choi SS, Kim WH. Assessment of cerebral hemodynamics to acetazolamide using brain perfusion SPECT in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Clin Nucl Med. 2011;36:158–9.
Article
PubMed
Google Scholar
Fujiwara Y, Mizuno T, Okuyama C, Nagakane Y, Watanabe-Hosomi A, Kondo M, et al. Simultaneous impairment of intracranial and peripheral artery vasoreactivity in CADASIL patients. Cerebrovasc Dis. 2012;33:128–34.
Article
PubMed
Google Scholar
Peters N, Freilinger T, Opherk C, Pfefferkorn T, Dichgans M. Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL. J Neurol Sci. 2007;260:100–5.
Article
CAS
PubMed
Google Scholar
Peters N, Freilinger T, Opherk C, Pfefferkorn T, Dichgans M. Enhanced L-arginine-induced vasoreactivity suggests endothelial dysfunction in CADASIL. J Neurol. 2008;255:1203–8.
Article
PubMed
Google Scholar
De Maria R, Campolo J, Frontali M, Taroni F, Federico A, Inzitari D, et al. Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial. Stroke. 2014;45:2959–66.
Article
PubMed
CAS
Google Scholar
Liu XY, Gonzalez-Toledo ME, Fagan A, Duan WM, Liu Y, Zhang S, et al. Stem cell factor and granulocyte colony-stimulating factor exhibit therapeutic effects in a mouse model of CADASIL. Neurobiol Dis. 2015;73:189–203.
Article
CAS
PubMed
Google Scholar