REFERENCES

• Tournier-LasserveE.JoutelA.MelkiJ.et al.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.Nat Genet199332562598485581
   PubMed Web of Science ®Google Scholar
• JoutelA.CorpechotC.DucrosA.et al.Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.Nature.19963837077108878478
   PubMed Web of Science ®Google Scholar
• OpherkC.PetersN.HerzogJ.LuedtkeR.DichgansM.Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.Brain.2004127 (Pt 11)2533253915364702
   PubMed Web of Science ®Google Scholar
• DichgansM.MayerM.UttnerI.et al.The phenotypic spectrum of CADASIL: clinical findings in 102 cases.Ann Neurol.1998447317399818928
   PubMed Web of Science ®Google Scholar
• ChabriatH.VahediK.Iba-ZizenMT.et al.Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Lancet.19953469349397564728
   PubMed Web of Science ®Google Scholar
• SinghalS.BevanS.BarrickT.RichP.MarkusHS.The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.Brain.20041272031203815229130
   PubMed Web of Science ®Google Scholar
• RazviSS.DavidsonR.BoneI.MuïrKW.The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.J Neurol Neurosurg Psychiatry.20057673974115834040
   PubMed Web of Science ®Google Scholar
• BaudrimontM.DubasF.JoutelA.Tournïer-LasserveE.BousserMG.Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. Aclinicopathological study.Stroke.1993241221258418535
   PubMed Web of Science ®Google Scholar
• RuchouxMM.MaurageCA.CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.J Neuropathol Exp Neurol.1997569479649291937
   PubMed Web of Science ®Google Scholar
• RuchouxMM.BrulinP.BrillaultJ.DehouckMP.CecchelliR.BataillardM.Lessons from CADASILAnn N Y Acad Sci.200297722423112480754
   PubMed Web of Science ®Google Scholar
• RuchouxMM.GuerouaouD.VandenhauteB.PruvoJP.VermerschP.LeysD.Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Acta Neuropathol (Berl).1995895005127676806
   PubMed Web of Science ®Google Scholar
• DavousP.Fallet-BiancoC.[Familial subcortical dementia with arteriopathic leukoencephalopathy. Aclinico-pathological case].Rev Neurol (Paris).19911473763841853035
   PubMed Web of Science ®Google Scholar
• PullicinoP.OstowP.MillerL.SnyderW.MuschauerF.Pontine ischemic rarefaction.Ann Neurol.1995374604667717682
   PubMed Web of Science ®Google Scholar
• OkedaR.ArimaK.KawaiM.Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: examination of cerebral medullary arteries by reconstruction of serial sections of an autopsy case.Stroke.2002332565256912411643
   PubMed Web of Science ®Google Scholar
• MiaoQ.PalonevaT.TuominenS.et al.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.20041435836415605982
   PubMed Web of Science ®Google Scholar
• ZhangWW.MaKC.AndersenO.SouranderP.TollessonPO.OlssonY.The microvascular changes in cases of hereditary multi-infarct disease of the brain.Acta Neuropathol (Berl).1994873173248009965
   PubMed Web of Science ®Google Scholar
• GrayF.RobertF.LabrecqueR.et al.Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease.Neuropathol Appl Neurobiol.19942022308208337
   PubMed Web of Science ®Google Scholar
• MikolJ.HeninD.BaudrimontM.et al.[Atypical CADASIL phenotypes and pathological findings in two new French families].Rev Neurol (Paris).200115765566711458185
   PubMed Web of Science ®Google Scholar
• BergmannM.EbkeM.YuanY.BruckW.MuglerM.SchwendemannG. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family.Acta Neuropathol (Berl).1996923413508891065
   PubMed Web of Science ®Google Scholar
• DesmondDW.MoroneyJT.LynchT.et al.CADASIL in a North American family: clinical, pathologic, and radiologic findings.Neurology.1998518448499748037
   PubMed Web of Science ®Google Scholar
• FilleyCM.ThompsonLL.SzeCI.SimonJA.PaskavitzJF.Kleinschmidt-DeMastersBK.White matter dementia in CADASIL.J Neurol Sci.199916316316710371078
   PubMed Web of Science ®Google Scholar
• Gutierrez-MolinaM.Caminero RodriguezA.Martinez Garcia C.Arpa GutierrezJ.Morales BastosC.AmerG.Small arterial granular degeneration in familial Binswanger's syndrome.Acta Neuropathol (Berl).199487981058140899
   PubMed Web of Science ®Google Scholar
• JoutelA.AndreuxF.GaulïsS.et al.The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.J Clin invest.200010559760510712431
   PubMed Web of Science ®Google Scholar
• VillaN.WalkerL.LïndsellCE.GassonJ.Iruela-ArispeML.WeinmasterG.Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels.Mech Dev.200110816116411578869
   PubMed Web of Science ®Google Scholar
• JoutelA.CorpechotC.DucrosA.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.19978262132179329692
   PubMed Web of Science ®Google Scholar
• JoutelA.Tournier-LasserveE.Notch signalling pathway and human diseases.Semin Cell Dev Biol.1998961962510075489
   PubMed Web of Science ®Google Scholar
• GrayGE.MannRS.MïtsiadïsE.et al.Human ligands of the Notch receptor.Am J Pathol.19991547859410079256
   PubMed Web of Science ®Google Scholar
• DomengaV.FardouxP.LacombeP.et al.Notch3 is required for arterial identity and maturation of vascular smooth muscle cells.Genes Dev.2004182730273515545631
   PubMed Web of Science ®Google Scholar
• JoutelA.ChabriatH.VahediK.et al.Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.Neurology.2000541874187510802807
   PubMed Web of Science ®Google Scholar
• JoutelA.VahediK.CorpechotC.et al.Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.Lancet.1997350151115159388399
   PubMed Web of Science ®Google Scholar
• DottiMT.FedericoA.MazzeiR.et al.The spectrum of Notch3 mutations in 28 Italian CADASIL families.J Neurol Neurosurg Psychiatry.20057673673815834039
   PubMed Web of Science ®Google Scholar
• PetersN.OpherkC.BergmannT.CastroM.HerzogJ.DichgansM.Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.Arch Neurol.2005621091109416009764
   PubMed Web of Science ®Google Scholar
• BlaumuellerCM.QiH.ZagourasP.Artavanis-TsakonasS.Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane.Cell.1997902812919244302
   PubMed Web of Science ®Google Scholar
• JoutelA.FrancoisA.ChabriatH.et al.[CADASIL: genetics and physiopathology].Bull Acad Natl Med.200018415351542; discussion 1542-154411261257
   PubMed Web of Science ®Google Scholar
• JoutelA.Tournier-LasserveE.[Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain].J Soc Biol.200219610911512134625
   PubMedGoogle Scholar
• RobinsonW.GalettaSL.McCluskeyL.FormanMS.BalcerLJ.Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil).Surv Ophthalmol.20014544544811274696
   PubMed Web of Science ®Google Scholar
• Brulin-FardouxP.GodfrainC.MaurageCA.et al.Glycohistochemical characterization of vascular muscle cell destruction in CADASIL subjects by lectins, neoglycoconjugates and galectin-spedfic antibodies.Neuropathol Appl Neurobioi.200329400410
   PubMed Web of Science ®Google Scholar
• SchroderJM.SellhausB.JorgJ.Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Acta Neuropathol (Berl).1995891161217732783
   PubMed Web of Science ®Google Scholar
• GoebelHH.MeyermannR.RosinR.SchloteW.Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin.Muscle Nerve.1997206256279140375
   PubMed Web of Science ®Google Scholar
• RuchouxMM.ChabriatH.BousserMG.BaudrimontM.TournierLasserveE.Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL.Stroke.199425229122927974561
   PubMed Web of Science ®Google Scholar
• ChabriatH.JoutelA.VahediK.Iba-ZizenMT.Tournier-LasserveE.BousserMG.[CADASIL. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalophathy].Rev Neurol (Paris).1997153(67)3763859684003
   PubMed Web of Science ®Google Scholar
• EbkeM.DichgansM.BergmannM.et al.CADASIL: skin biopsy allows diagnosis in early stages.Acta Neurol Scand.1997953513579228269
   PubMed Web of Science ®Google Scholar
• JenJ.CohenAH.YueQ.et al.Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).Neurology.199749132213309371916
   PubMed Web of Science ®Google Scholar
• SchultzA.SantoïannïR.Hewan-LoweK.Vasculopathïc changes of CADASIL can be focal in skin biopsies.Ultrastruct Pathol.19992324124710503743
   PubMed Web of Science ®Google Scholar
• JoutelA.FavroleP.LabaugeP.et al.Skin biopsy ïmmunostaïnïng with a Notch3 monoclonal antibody for CADASIL diagnosis.Lancet.20013582049205111755616
   PubMed Web of Science ®Google Scholar
• RuchouxMM.DomengaV.BrulïnP.et al.Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Am J Pathol.200316232934212507916
   PubMed Web of Science ®Google Scholar
• LacombeP.OligoC.DomengaV.Tournier-LasserveE.JoutelA.Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy.Stroke.2005361053105815817893
   PubMed Web of Science ®Google Scholar
• DubrocaC.LacombeP.DomengaV.et al.Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy.Stroke.20053611311715569862
   PubMed Web of Science ®Google Scholar
• DesmondDW.MoroneyJT.LynchT.ChanS.ChinSS.MohrJP.The natural history of CADASIL: a pooled analysis of previously published cases.Stroke.1999301230123310356105
   PubMed Web of Science ®Google Scholar
• TrojanoL.RagnoM.MancaA.CarusoG.A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up.J Neurol.19982452172229591223
   PubMed Web of Science ®Google Scholar
• Lesnik ObersteinSA.van den BoomR.MiddelkoopHA.et al.Incipient CADASIL.Arch Neurol.20036070771212756134
   PubMedGoogle Scholar
• TailliaH.ChabriatH.KurtzA.et al.Cognitive alterations in nondemented CADASIL patients.CerebrovascDis. 1998897101
   PubMed Web of Science ®Google Scholar
• AmberlaK.WaljasM.TuominenS.et al.Insidious cognitive decline in CADASIL.Stroke.2004351598160215143298
   PubMed Web of Science ®Google Scholar
• HoltmannspotterM.PetersN.OpherkC.et al.Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study.Stroke.2005362559256516269644
   PubMed Web of Science ®Google Scholar
• BuffonF.PorcherR.HernandezK.et al.Cognitive profile in CADASILJ Neurol Neurosurg Psychiatry.20067717518016421118
   PubMed Web of Science ®Google Scholar
• PetersN.OpherkC.DanekA.BallardC.HerzogJ.DichgansM.The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia.Am J Psychiatry20051622078208516263847
   PubMed Web of Science ®Google Scholar
• HederaP.FrïedlandRP.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: study of two American families with predominant dementia.J Neurol Sci.199714627339077492
   PubMed Web of Science ®Google Scholar
• ChabriatH.Tournier-LasserveE.VahediK.et al.Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus.Neurology.199545108610917783868
   PubMed Web of Science ®Google Scholar
• PetersN.HerzogJ.OpherkC.DichgansM.A two-year clinical followup study in 80 CADASIL subjects: progression patterns and implications for clinical trials.Stroke.2004351603160815155961
   PubMed Web of Science ®Google Scholar
• MolkoN.PappataS.ManginJF.et al.Diffusion tensor imaging study of subcortical gray matter in cadasil.Stroke.2001322049205411546896
   PubMed Web of Science ®Google Scholar
• ZekryD.DuyckaertsC.BelmïnJ.et al.The vascular lesions in vascular and mixed dementia: the weight of functional neuroanatomy.Neurobiol Aging.20032421321912498955
   PubMed Web of Science ®Google Scholar
• ChabriatH.JoutelA.VahediK.Iba-ZizenMT.Tournier-LasserveE.BousserMG.[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): clinical features and neuroimaging].Bull Acad Natl Med.200018415231531; discussion 1531-1533.11261256
   PubMedGoogle Scholar
• KumarSK.MahrG.CADASIL presenting as bipolar disorder.Psychosomatics.1997383973989217412
   PubMed Web of Science ®Google Scholar
• AhearnEP.SpeerMC.ChenYT.et al.Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.Am J Med Genet.200211465265812210282
   PubMed Web of Science ®Google Scholar
• AylwardED.Roberts-WillieJV.BartaPE.et al.Basal ganglia volume and white matter hyperintensities in patients with bipolar disorder.Am J Psychiatry.199456876938166310
   PubMedGoogle Scholar
• BhatiaK.MarsdenC.The behavioural and motor consequences of focal lesions of the basal ganglia in man.Brain.19941178598767922471
   PubMed Web of Science ®Google Scholar
• VerïnM.RollandY.LandgrafF.et al.New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature.J Neurol Neurosurg Psychiatry.1995595795857500094
   PubMed Web of Science ®Google Scholar
• LagasPA.JuvonenV.Schizophrenia in a patient with cerebral autosomally dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL disease).Nord J Psychiatry.200155414211827605
   PubMed Web of Science ®Google Scholar
• ThomasN.MathewsT.LoganathanA.Cadasil: presenting as a mood disorder.Scott Med J.200247363712058662
   PubMed Web of Science ®Google Scholar
• LeyheT.WïendlH.BuchkremerG.WormstallH.CADASIL: underdiagnosed in psychiatric patients?Acta Psychiatr Scand.2005111392396; discussion 396-39715819734
   PubMed Web of Science ®Google Scholar
• Tournier-LasserveE.Iba-ZizenMT.RomeroN.BousserMG.Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.Stroke.199122129713021926242
   PubMed Web of Science ®Google Scholar
• ChabriatH.LevyC.TailliaH.et al.Patterns of MRI lesions in CADASILNeurology.1998514524579710018
   PubMed Web of Science ®Google Scholar
• DichgansM.FïlïppïM.BruningR.et al.Quantitative MRI in CADASIL: correlation with disability and cognitive performance.Neurology.1999521361136710227618
   PubMed Web of Science ®Google Scholar
• ChabriatH.MrissaR.LevyC.et al.Brain stem MRI signal abnormalities in CADASILStroke.1999304574599933287
   PubMed Web of Science ®Google Scholar
• CoulthardA.BlankSC.BushbyK.KalariaRN.BurnDJ.Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL.Br J Radiol.20007325626510817040
   PubMed Web of Science ®Google Scholar
• AuerDP.PutzB.GosslC.ElbelG.GasserT.DichgansM.Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison.Radiology.200121844345111161160
   PubMed Web of Science ®Google Scholar
• O'SullivanM.JaroszJM.MartinRJ.DeasyN.PowellJF.MarkusHS.MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL.Neurology.20015662863411245715
   PubMed Web of Science ®Google Scholar
• MarkusHS.MartinRJ.SimpsonMA.et al.Diagnostic strategies in CADASILNeurology.2002591134113812395806
   PubMed Web of Science ®Google Scholar
• IwatsukiK.MurakamiT.ManabeY.et al.Two cases of Japanese CADASIL with corpus callosum lesion.Tohoku J Exp Med.200119513514011846209
   PubMed Web of Science ®Google Scholar
• van Den BoomR.Lesnik ObersteinSA.van DuinenSG.et al.Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Radiology.200222479179612202716
   PubMed Web of Science ®Google Scholar
• ChabriatH.PappataS.PouponC.et al.Clinical severity in CADASIL related to ultrastructural damage in white matter: in vivo study with diffusion tensor MRI.Stroke.1999302637264310582990
   PubMed Web of Science ®Google Scholar
• ChabriatH.Diffusion histograms in CADASILStroke.2005362526XX16269643
   PubMed Web of Science ®Google Scholar
• MesulamM.SiddiqueT.CohenB.Cholinergic denervation in a pure multi-infarct state: observations on CADASILNeurology.2003601183118512682331
   PubMed Web of Science ®Google Scholar
• ViswanathanA.GrayF.BousserMG.BaudrimontM.ChabriatH.Cortical neuronal apoptosis in CADASILStroke.2006372690269517008611
   PubMed Web of Science ®Google Scholar
• O'SullivanM.SinghalS.CharltonR.MarkusHS.Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia.Neurology.20046270270715007117
   PubMed Web of Science ®Google Scholar
• O'SullivanM.BarrickTR.MorrisRG.ClarkCA.MarkusHS.Damage within a network of white matter regions underlies executive dysfunction in CADASILNeurology.2005651584159016301485
   PubMed Web of Science ®Google Scholar
• VahediK.ChabriatH.LevyC.JoutelA.Tournier-LasserveE.BousserMG.Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL.Arch Neurol.2004611237124015313840
   PubMedGoogle Scholar
• Society. IH. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain.Cephalalgia.1988 suppl78
   Google Scholar
• SchonF.MartinRJ.PrevettM.CloughC.EnevoldsonTP.MarkusHS.“CADASIL coma”: an underdiagnosed acute encephalopathy.J Neurol Neurosurg Psychiatry.20037424925212531961
   PubMed Web of Science ®Google Scholar
• Le BerI.CarluerL.DeracheN.LaleveeC.LedozeF.DeferGL.Unusual presentation of CADASIL with reversible coma and confusion.Neurology.2002591115111612370482
   PubMed Web of Science ®Google Scholar
• FeuerhakeF.VolkB.OstertagCB.et al.Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL.Acta Neuropathol (Berl).200210318819211810186
   PubMed Web of Science ®Google Scholar
• RequenaI.IndakoetxeaB.LemaC.SantosB.Garcia-CastineiraA.AriasM.[Coma associated with migraine].Rev Neurol.1999291048105110637870
   PubMed Web of Science ®Google Scholar
• FitzimonsRB.WolfendenWH.Migraine coma. Meningitic migraine with cerebral oedema associated with a new form of autosomal dominant cerebellar ataxia..Brain.1991108555577
   Google Scholar
• BousserMG.Tournier-LasserveE.Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993.Stroke.1994257047077907448
   PubMed Web of Science ®Google Scholar
• MalandriniA.CarreraP.CiacciG.et al.Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy.Neurology.199748120012039153443
   PubMed Web of Science ®Google Scholar
• Van GerpenJA.AhlskogJE.PettyGW.Progressive supranuclear palsy phenotype secondary to CADASIL.Parkinsonism Relat Disord.2003936736912853237
   PubMed Web of Science ®Google Scholar
• RufaA.De StefanoN.DottiMTet al.Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Arch Neurol.20046157758015096408
   PubMed Web of Science ®Google Scholar
• RagnoM.Tournier-LasserveE.FiorïMG.et al.An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Ann Neurol.1995382312367654071
   PubMed Web of Science ®Google Scholar
• LvH.YaoS.ZhangW.et al.[Clinical features in 4 Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).].Beijing Da Xue Xue Bao.20043649650015489930
   PubMedGoogle Scholar
• SicurelliF.DottiMT.De StefanoN.et al.Peripheral neuropathy in CADASILJ Neurol.20052521206120915827866
   PubMed Web of Science ®Google Scholar