cadasil

Summary

Summary: A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)

Top Publications

  1. ncbi Strategic role of frontal white matter tracts in vascular cognitive impairment: a voxel-based lesion-symptom mapping study in CADASIL
    Marco Duering
    Institute for Stroke and Dementia Research, Ludwig Maximilians University, Munich, Germany
    Brain 134:2366-75. 2011
  2. ncbi Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL
    Akira Ishiko
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160 8582, Japan
    Acta Neuropathol 112:333-9. 2006
  3. pmc Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
    Saara Tikka
    Protein Chemistry Unit, Institute of Biomedicine Anatomy, University of Helsinki, Finland
    Brain 132:933-9. 2009
  4. ncbi Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia
    Michael O'Sullivan
    Division of Clinical Neuroscience, St George s Hospital Medical School, London, UK
    Neurology 62:702-7. 2004
  5. ncbi Reduction of optic nerve fiber layer thickness in CADASIL
    V Parisi
    G B Bietti Eye Foundation IRCCS, Department of Neurophysiology of Vision and Neurophthalmology, Rome, Italy
    Eur J Neurol 14:627-31. 2007
  6. ncbi Diffusion histograms in CADASIL
    Hugues Chabriat
    Stroke 36:2526. 2005
  7. ncbi The cognitive profiles of CADASIL and sporadic small vessel disease
    R A Charlton
    Clinical Neuroscience, St George s University of London, UK
    Neurology 66:1523-6. 2006
  8. ncbi CADASIL
    D Herve
    Service de Neurologie, Centre de Référence des maladies Vasculaires rares du Cerveau et de l Oeil CERVCO, Hopital Lariboisiere, Paris, France
    J Geriatr Psychiatry Neurol 23:269-76. 2010
  9. ncbi Diagnostic value of ultrastructural skin biopsy studies in CADASIL
    A Malandrini
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Neurology 68:1430-2. 2007
  10. ncbi Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature
    Anne Joutel
    INSERM U740, Paris, France
    Bioessays 33:73-80. 2011

Detail Information

Publications240 found, 100 shown here

  1. ncbi Strategic role of frontal white matter tracts in vascular cognitive impairment: a voxel-based lesion-symptom mapping study in CADASIL
    Marco Duering
    Institute for Stroke and Dementia Research, Ludwig Maximilians University, Munich, Germany
    Brain 134:2366-75. 2011
    ..We applied a voxel-based lesion-symptom mapping approach to data from 215 patients with CADASIL, a genetically defined small vessel disease with mutations in the NOTCH3 gene...
  2. ncbi Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL
    Akira Ishiko
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160 8582, Japan
    Acta Neuropathol 112:333-9. 2006
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited systemic vascular disorder characterized by recurrent subcortical ischemic strokes leading to vascular dementia...
  3. pmc Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
    Saara Tikka
    Protein Chemistry Unit, Institute of Biomedicine Anatomy, University of Helsinki, Finland
    Brain 132:933-9. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary subcortical vascular dementia...
  4. ncbi Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia
    Michael O'Sullivan
    Division of Clinical Neuroscience, St George s Hospital Medical School, London, UK
    Neurology 62:702-7. 2004
    ..an early feature in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and may progress to a subcortical dementia...
  5. ncbi Reduction of optic nerve fiber layer thickness in CADASIL
    V Parisi
    G B Bietti Eye Foundation IRCCS, Department of Neurophysiology of Vision and Neurophthalmology, Rome, Italy
    Eur J Neurol 14:627-31. 2007
    ..patients affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)...
  6. ncbi Diffusion histograms in CADASIL
    Hugues Chabriat
    Stroke 36:2526. 2005
  7. ncbi The cognitive profiles of CADASIL and sporadic small vessel disease
    R A Charlton
    Clinical Neuroscience, St George s University of London, UK
    Neurology 66:1523-6. 2006
    ..onset genetic disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) offers a model of pure vascular dementia, in which such confounding is unlikely...
  8. ncbi CADASIL
    D Herve
    Service de Neurologie, Centre de Référence des maladies Vasculaires rares du Cerveau et de l Oeil CERVCO, Hopital Lariboisiere, Paris, France
    J Geriatr Psychiatry Neurol 23:269-76. 2010
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a dominantly inherited small artery disease that leads to dementia and disability in mid-life...
  9. ncbi Diagnostic value of ultrastructural skin biopsy studies in CADASIL
    A Malandrini
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Neurology 68:1430-2. 2007
  10. ncbi Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature
    Anne Joutel
    INSERM U740, Paris, France
    Bioessays 33:73-80. 2011
    ..Dominant mutations in NOTCH3 cause CADASIL, one of the most prevalent inherited cerebral SVDs...
  11. ncbi Damage within a network of white matter regions underlies executive dysfunction in CADASIL
    M O'SULLIVAN
    Clinical Neuroscience, St George s, University of London, UK
    Neurology 65:1584-90. 2005
    To identify the important sites of white matter disruption that underpin executive dysfunction in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a genetic model of pure subcortical ..
  12. ncbi Acute confusional migraine may be a presenting feature of CADASIL
    Swati Sathe
    Division of Neurogenetics, Department of Neurology, NYU School of Medicine, New York, NY 10016, USA
    Headache 49:590-6. 2009
    ..the phenomenon of acute confusional migraine (ACM) among Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients and emphasize the possibility of CADASIL in adults with ACM.
  13. ncbi Cadasil
    Hugues Chabriat
    Service de Neurologie, Groupe Hospitalier Lariboisière Fernand Widal, Assistance Publique Hopitaux de Paris, F 75010, Paris, France
    Lancet Neurol 8:643-53. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults...
  14. pmc Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease
    Anne Joutel
    INSERM U740, Paris, France
    J Clin Invest 120:433-45. 2010
    ..in NOTCH3 cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic archetype of cerebral ischemic SVD...
  15. pmc CADASIL: experimental insights from animal models
    Cenk Ayata
    Neurovascular Research Laboratory, Department of Radiology, and Stroke Service and Neuroscience Intensive Care Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Mass 02129, USA
    Stroke 41:S129-34. 2010
    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) syndrome is the most common monogenic inherited form of small vessel disease, characterized by frequent migraine attacks with aura, ..
  16. ncbi Brain atrophy is related to lacunar lesions and tissue microstructural changes in CADASIL
    Eric Jouvent
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, and Université Paris VII, Paris, France
    Stroke 38:1786-90. 2007
    ..progression in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The contribution of subcortical cerebral lesions in this process remains undetermined...
  17. ncbi Impact of MRI markers in subcortical vascular dementia: a multi-modal analysis in CADASIL
    Anand Viswanathan
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, Paris, France
    Neurobiol Aging 31:1629-36. 2010
    b>CADASIL is an arteriopathy caused by mutations of the Notch3 gene. White matter hyperintensities (WMH), lacunar lesions (LL), cerebral microhemorrhages (CM), brain atrophy and tissue microstructural changes are detected on MRI...
  18. ncbi Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals
    Poneh Adib-Samii
    Clinical Neurosciences, St George s University of London, London, England
    Stroke 41:630-4. 2010
    Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited arteriopathy with clinical features that include recurrent lacunar stroke, migraine, and cognitive impairment...
  19. ncbi Notch signaling and CADASIL
    Sung Chun Tang
    Stroke Center, National Taiwan University Hospital, Taiwan
    Acta Neurol Taiwan 18:81-90. 2009
    ..disease known as cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL). CADASIL is characterized by recurrent strokes and cognitive impairment...
  20. ncbi Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation
    Y Kim
    Department of Biochemistry, School of Medicine, Wonkwang University, Iksan, Chonbuk, Korea
    Neurology 66:1511-6. 2006
    To elucidate the phenotype, genotype, and MRI findings of Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mutation carriers.
  21. pmc Depressive symptoms as a predictor of quality of life in cerebral small vessel disease, acting independently of disability; a study in both sporadic small vessel disease and CADASIL
    Rebecca L Brookes
    Stroke and Dementia Research Centre, St George s, University of London, London, UK
    Int J Stroke 8:510-7. 2013
    ..Factors causing reduced quality of life in small vessel disease, including the relative contributions of disability and depressive symptoms, remain uncertain...
  22. ncbi Cerebral hemorrhages in CADASIL: report of four cases and a brief review
    Valentina Rinnoci
    Department of Neurological and Psychiatric Sciences, University of Florence, Italy
    J Neurol Sci 330:45-51. 2013
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease, clinically characterized by migraine, recurrent transient ischemic attacks or strokes, ..
  23. ncbi Enhanced L-arginine-induced vasoreactivity suggests endothelial dysfunction in CADASIL
    Nils Peters
    Dept of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, 81377, Munich, Germany
    J Neurol 255:1203-8. 2008
    Mutations in the Notch3 gene are the cause of CADASIL, a hereditary small vessel disease leading to stroke and vascular dementia...
  24. pmc Spontaneous lobar haemorrhage in CADASIL
    A V Maclean
    J Neurol Neurosurg Psychiatry 76:456-7. 2005
  25. ncbi Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C
    Jay Chol Choi
    Department of Neurology and Institute of Medical Science, Jeju National University, Jeju, Korea
    J Stroke Cerebrovasc Dis 22:126-31. 2013
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the NOTCH3 gene...
  26. ncbi A novel CADASIL-causing mutation in a stroke patient
    Michail Vikelis
    Department of Neurology, Athens General Hospital G Gennimatas, Athens, Greece
    Swiss Med Wkly 137:323-5. 2007
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an uncommon autosomal dominant genetic disease due to mutations in the Notch3 gene on chromosome 19...
  27. ncbi p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL
    Yasuteru Sano
    Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan
    Intern Med 50:2833-8. 2011
    ..The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan...
  28. ncbi Impaired endothelial function of forearm resistance arteries in CADASIL patients
    Anna Stenborg
    Department of Medical Sciences, University and University Hospital of Uppsala, Sweden
    Stroke 38:2692-7. 2007
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy, which mainly involves the brain causing stroke and dementia...
  29. pmc Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant
    Anna Bersano
    Emergency Unit, C Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy
    Funct Neurol 27:247-52. 2012
    ..not involving cysteine residues, have been described in patients considered to be affected by paucisymptomatic CADASIL. However, the significance of such molecular variants is still unclear...
  30. ncbi Cognition in CADASIL
    Martin Dichgans
    Department of Neurology, Ludwig Maximilians Universitat, Klinikum Grobetahadern, Marchionistr 15, D 81377 Munchen, Germany
    Stroke 40:S45-7. 2009
    b>CADASIL is an early onset small vessel disease and genetic variant of pure subcortical ischemic vascular dementia (SIVD)...
  31. ncbi Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study
    Anand Viswanathan
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, Paris, France
    Brain 129:2375-83. 2006
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary arteriopathy caused by mutations of the Notch3 gene...
  32. ncbi Aspirin-associated intracerebral hemorrhage in a patient with CADASIL
    Jung Hwan Oh
    Department of Neurology, Cheju National University School of Medicine, Jeju, Republic of Korea
    Clin Neurol Neurosurg 110:384-6. 2008
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease characterized by ischemic stroke, cognitive impairment, migraine and neuropsychological deficit...
  33. ncbi 7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL
    Michael K Liem
    Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333ZA Leiden, The Netherlands
    J Neurol Neurosurg Psychiatry 83:1180-5. 2012
    ..The aim of this study is to quantify diffuse iron deposition in patients with the hereditary small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  34. pmc Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3
    He Meng
    Department of Neurology, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS ONE 7:e44964. 2012
    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the best understood cause of dominantly inherited stroke and results from NOTCH3 mutations that lead to NOTCH3 protein accumulation ..
  35. ncbi Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?
    Dominique Guerrot
    Nephrology Department, Rouen University Hospital, Rouen, France
    Am J Kidney Dis 52:340-5. 2008
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a systemic arterial disease characterized by impairment of vascular smooth muscle cell structure and function related to NOTCH3 ..
  36. ncbi [Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene]
    Satoshi Kotorii
    Division of Clinical Research, Nagasaki Medical Center of Neurology
    Rinsho Shinkeigaku 46:644-8. 2006
    ..patient's disease as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  37. ncbi Intracerebral haemorrhage in CADASIL. A case report
    Bart F Werbrouck
    Department of Neurology, Ghent University Hospital, Ghent, Belgium
    Acta Neurol Belg 106:219-21. 2006
    b>CADASIL is an autosomal dominant inherited arteriopathy caused by a point mutation in the Notch3 gene. Classically, it is characterised by recurrent ischemic strokes, often resulting in mental decline...
  38. ncbi Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy
    R O Carare
    Clinical Neurosciences and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK
    Neuropathol Appl Neurobiol 39:593-611. 2013
    ..material (GOM) in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) as examples of different factors involved in the aetiology and pathogenesis of PEFA...
  39. ncbi CADASIL mutations impair Notch3 glycosylation by Fringe
    Joseph F Arboleda-Velasquez
    Neurology Department, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Hum Mol Genet 14:1631-9. 2005
    Mutations in the NOTCH3 gene trigger adult-onset stroke and vascular dementia in patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)...
  40. ncbi CADASIL: underdiagnosed in psychiatric patients?
    T Leyhe
    Department of Psychiatry and Psychotherapy, University of Tubingen, Germany
    Acta Psychiatr Scand 111:392-6; discussion 396-7. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is exclusively related to symptoms of the central nervous system...
  41. ncbi Cortical neuronal apoptosis in CADASIL
    Anand Viswanathan
    Department of Neurology, Assistance Publique Hôpitaux de Paris AP HP Hôpital Lariboisière Université Paris VII, Paris, France
    Stroke 37:2690-5. 2006
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the NOTCH3 gene and is a model of pure vascular dementia...
  42. ncbi Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study
    Markus Holtmannspotter
    Abteilung fur Neuroradiologie, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munich, Germany
    Stroke 36:2559-65. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene...
  43. ncbi Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    T Kusaba
    Division of Nephrology and Hypertension, Department of Internal Medicine, Kyoto Prefectural University of Medicine, 456 Kajii cho Kamigyo ku Kyoto city, 602 8566, Japan
    Clin Nephrol 67:182-7. 2007
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary systemic arteriopathy presenting with migraines, mood disorders, focal neurologic deficits, recurrent ischemic attacks ..
  44. ncbi Characteristic features of in vivo skin microvascular reactivity in CADASIL
    Claire Gobron
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, Paris, France
    J Cereb Blood Flow Metab 27:250-7. 2007
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is caused by mutations in the Notch3 receptor expressed at the surface of vascular smooth muscle cells...
  45. ncbi A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient
    Francesca Pescini
    Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy
    J Neurol Sci 267:170-3. 2008
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an inherited small vessel disease causing migraine, early strokes, cognitive impairment and premature death...
  46. ncbi Skin biopsy findings and results of neuropsychological testing in the first confirmed cases of CADASIL in Norway
    W Rein Gustavsen
    Department of Neurology, Sykehuset Østfold Fredrikstad, Norway
    Eur J Neurol 13:359-62. 2006
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by mutations in the notch3 gene. The mutation can be demonstrated by a gene test...
  47. pmc Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy
    Caroline Dubroca
    INSERM E365, Universite Paris 7, Paris, France
    Stroke 36:113-7. 2005
    b>CADASIL is an inherited small-vessel disease responsible for lacunar strokes and cognitive impairment...
  48. pmc Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient
    Saara Ihalainen
    Protein Chemistry Unit, Institute of Biomedicine Anatomy, University of Helsinki, Helsinki, Finland
    Mol Med 13:305-14. 2007
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a vascular dementing disease caused by mutations in the NOTCH3 gene, most which are missense mutations leading to an uneven number of ..
  49. ncbi Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype
    Johan Lundkvist
    Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, SE 171 77 Stockholm, Sweden
    Genesis 41:13-22. 2005
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, MIM 125310) is a genetic vascular dementia disease that is linked to missense mutations, small in-frame deletions, and splice site ..
  50. ncbi CADASIL-causing mutations do not alter Notch3 receptor processing and activation
    Wee Chuang Low
    Institute for Ageing and Health, University of Newcastle, Newcastle upon Tyne, UK
    Neuroreport 17:945-9. 2006
    b>CADASIL is associated with mutations in the Notch3 gene but the causal mechanisms of the disorder remain unclear...
  51. ncbi High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Alessia Cappelli
    U O Laboratorio Analisi Cliniche e Microbiologiche, Settore di Medicina Molecolare ASUR ZT13, Ascoli Piceno, Italy
    Neurosci Lett 462:176-8. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease caused by mutations in NOTCH3 gene and clinically characterized by recurrent ischemic strokes, ..
  52. ncbi CADASIL: pathogenesis, clinical and radiological findings and treatment
    Charles Andre
    School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil
    Arq Neuropsiquiatr 68:287-99. 2010
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia...
  53. ncbi Impaired vasoreactivity in mildly disabled CADASIL patients
    Jonica Campolo
    Institute, Cardiovascular Department, Niguarda Ca Granda Hospital, Milan, Italy
    J Neurol Neurosurg Psychiatry 83:268-74. 2012
    b>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease caused by NOTCH3 gene mutations...
  54. ncbi Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL)
    Michele Ragno
    Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy
    Neurogenetics 12:337-43. 2011
    b>CADASIL is a hereditary systemic vasculopathy which affects mainly small cerebral arteries and is caused by mutations in the Notch3 gene...
  55. ncbi CADASIL and migraine: A narrative review
    Michael K Liem
    Leiden University Medical Center, Netherlands
    Cephalalgia 30:1284-9. 2010
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke, cognitive decline, psychiatric ..
  56. ncbi Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    S Testi
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences Section of Neuropathology, University of Verona, Italy
    J Neurol Sci 319:37-41. 2012
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common form of familial vascular dementia, is caused by mutations of the NOTCH3 gene...
  57. ncbi Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study
    Alessandra Rufa
    Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Viale Bracci, Siena, Italy
    Cerebrovasc Dis 31:77-82. 2011
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is considered a genetic form of small-vessel disease causing subcortical dementia...
  58. ncbi Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up
    Michele Ragno
    Division of Neurology, Mazzoni Hospital, Ascoli Piceno, Italy
    Histol Histopathol 27:1307-14. 2012
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disorder of the cerebral small blood vessels caused by a mutation in the NOTCH3 gene, which encodes a large transmembrane receptor ..
  59. pmc Rapid improvement of a complex migrainous episode with sodium valproate in a patient with CADASIL
    Mika H Martikainen
    Department of Neurology, Turku University Hospital, Kiinamyllynkatu 4 8, 20521, Turku, Finland
    J Headache Pain 13:95-7. 2012
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease of small arteries caused by mutations in the Notch3 gene...
  60. ncbi CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation
    Paul Bentley
    Imperial College Cerebrovascular Research Unit, Imperial College Hospitals, Charing Cross Campus, Fulham Palace Rd, London W6 8RF, UK
    J Neurol Neurosurg Psychiatry 82:855-60. 2011
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cause of cerebral small-vessel disease associated with one of many recognised mutations of the NOTCH3 gene...
  61. ncbi Assessment of cerebral hemodynamics to acetazolamide using brain perfusion SPECT in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Soon Ah Park
    Department of Nuclear Medicine, Wonkwang University College of Medicine and Institute of Wonkwang Medical Science, Iksan, Republic of Korea
    Clin Nucl Med 36:158-9. 2011
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy caused by mutations in the Notch3 gene located on chromosome 19, leading to 4 cardinal features with ..
  62. ncbi Neurologic symptoms are common during gestation and puerperium in CADASIL
    S Roine
    Department of Neurology, University and University Hospital of Turku, Finland
    Neurology 64:1441-3. 2005
    ..12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly ..
  63. ncbi NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL
    Zhaoxia Wang
    Department of Neurology, Peking University First Hospital, Beijing, PR China
    J Neurol Neurosurg Psychiatry 82:534-9. 2011
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited small-vessel disease caused by mutations in NOTCH3...
  64. ncbi Enhanced rapid-onset cortical plasticity in CADASIL as a possible mechanism of preserved cognition
    Jonathan List
    Department of Neurology, University Hospital of Munster, 48149 Munster, Germany
    Cereb Cortex 21:2774-87. 2011
    ..3 years) with cerebral autosomal dominant arteriopathy with subcortical infarctions and leucoencephalopathy (CADASIL) who suffered from severe ischemic SVD and a group of 12 age-matched controls (49.9 ± 8.3 years)...
  65. ncbi The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo
    Marie Monet
    INSERM U740, Paris F 75010, France
    Hum Mol Genet 16:982-92. 2007
    Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) is the most prominent known cause of inherited stroke and vascular dementia in human adult...
  66. ncbi Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis
    Marco Duering
    Institute for Stroke and Dementia Research, Ludwig Maximilians University, 81377 Munich, Germany
    Hum Mol Genet 20:3256-65. 2011
    b>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common monogenic cause of stroke and vascular dementia...
  67. ncbi Acetazolamide improves cerebral hemodynamics in CADASIL
    Li Huang
    Department of Neurology, Xiangya Hospital of Central South University, Hunan Province, Changsha, 410008, China
    J Neurol Sci 292:77-80. 2010
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease caused by mutations in the NOTCH3 gene...
  68. ncbi Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients
    Patrizia Formichi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Physiol 219:494-502. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease affecting vascular smooth muscle cells of nearly all tissues...
  69. ncbi Apathy is related to cortex morphology in CADASIL. A sulcal-based morphometry study
    E Jouvent
    Service de Neurologie, Hopital Lariboisiere, 2 rue Ambroise Pare, Paris, France
    Neurology 76:1472-7. 2011
    ..symptom in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the pathophysiology of which remains poorly understood...
  70. ncbi Cholinergic neuronal deficits in CADASIL
    Jessica S Keverne
    Institute for Ageing and Health, Wolfson Research Centre, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, United Kingdom
    Stroke 38:188-91. 2007
    Previous evidence from MRI and acetylcholinesterase histochemistry suggests cholinergic fibers are affected in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  71. ncbi Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL
    Mika Harju
    Glaucoma Service, Department of Ophthalmology, Helsinki University Central Hospital, PL 220, 00029 HUS, Helsinki, Finland
    Stroke 35:2449-52. 2004
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive systemic nonatherosclerotic angiopathy which causes ischemic strokes and vascular subcortical dementia...
  72. ncbi Simultaneous impairment of intracranial and peripheral artery vasoreactivity in CADASIL patients
    Yasuhiro Fujiwara
    Department of Neurology, Kyoto Prefectural University of Medicine, Kyoto, Japan
    Cerebrovasc Dis 33:128-34. 2012
    ..the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  73. pmc Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate?
    Simona Sacco
    Department of Neurology, University of L Aquila, Piazzale Salvatore Tommasi 1, 67100 L Aquila, Italy
    J Headache Pain 11:181-6. 2010
    ..in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to verify the appropriateness of the International Classification of Headache Disorders, second edition (ICHD-..
  74. ncbi Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study
    Susanna Roine
    Department of Neurology, University and University Hospital of Turku, Turku, Finland
    Ophthalmology 113:1411-7. 2006
    ..and their clinical significance in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disease that causes migraine, recurrent strokes, and finally subcortical vascular dementia.
  75. ncbi Report of two Chinese families and a review of Mainland Chinese CADASIL patients
    Xin Zhen Yin
    Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
    J Neurol Sci 279:88-92. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease caused by a mutation of the NOTCH3 gene...
  76. ncbi CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene
    C Ungaro
    Institute of Neurological Sciences, National Research Council, Mangone, Italy
    J Neurosci Res 87:1162-7. 2009
    b>CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene...
  77. pmc Non-convulsive status epilepticus causing focal neurological deficits in CADASIL
    Philipp O Valko
    J Neurol Neurosurg Psychiatry 78:1287-9. 2007
  78. ncbi The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome
    Z O Uyguner
    Child Health Institute, Division of Medical Genetics, Istanbul University, Turkey
    J Neurol Sci 246:123-30. 2006
    ..responsible for the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). It is a late onset neurological disorder recognized by recurrent strokes and dementia...
  79. ncbi Migraine and cerebral white matter lesions: when to suspect cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Jonathan P Gladstone
    Mayo Clinic College of Medicine, Department of Neurology, 13400 E Shea Blvd, Scottsdale, AZ 85259, USA
    Neurologist 11:19-29. 2005
    ..The underlying pathogenesis of white matter lesions in migraineurs is unknown, and the lesions are usually nonspecific and of unclear clinical significance...
  80. ncbi Dilation of Virchow-Robin spaces in CADASIL
    R Cumurciuc
    Department of Neurology, Lariboisiere Hospital, Paris, France
    Eur J Neurol 13:187-90. 2006
    To precise the severity of dilated Virchow-Robin spaces (VRS) in CADASIL patients and to determine their correlation with clinical presentation and other abnormalities on cerebral Magnetic Resonance Imaging (MRI)...
  81. pmc The spectrum of Notch3 mutations in 28 Italian CADASIL families
    M T Dotti
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy
    J Neurol Neurosurg Psychiatry 76:736-8. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons...
  82. ncbi The spectrum of mutations for CADASIL diagnosis
    A Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, I 53100 Siena, Italy
    Neurol Sci 26:117-24. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13...
  83. ncbi Apathy: a major symptom in CADASIL
    S Reyes
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, France
    Neurology 72:905-10. 2009
    ....
  84. ncbi Cortical changes in cerebral small vessel diseases: a 3D MRI study of cortical morphology in CADASIL
    Eric Jouvent
    Department of Neurology, INSERM UMR 740 and Université Paris VII, France
    Brain 131:2201-8. 2008
    ..of patients with cerebral autosomal dominant arteriolopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic SVDB. Data were obtained from a series of 69 CADASIL patients...
  85. ncbi Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy
    Pierre Lacombe
    Génétique des Maladies Vasculaires, INSERM U740, Faculte de Medecine Lariboisiere Saint Louis, Paris, France
    Stroke 36:1053-8. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease causing stroke and dementia...
  86. ncbi Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Sung Chun Tang
    Stroke Center, National Taiwan University Hospital, Taipei, Taiwan
    J Neurol Sci 228:125-8. 2005
    ..and genotype of cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL) in Caucasians have been well characterized, but CADASIL is less recognized in Asian populations...
  87. ncbi The pathogenesis of CADASIL: an update
    R N Kalaria
    Institute for Ageing and Health, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, NE4 6 BE, UK
    J Neurol Sci 226:35-9. 2004
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) appears to be the most common form of hereditary stroke disorder...
  88. ncbi Small cerebral vessel disease in familial amyloid and non-amyloid angiopathies: FAD-PS-1 (P117L) mutation and CADASIL. Immunohistochemical and ultrastructural studies
    Grazyna M Szpak
    Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland
    Folia Neuropathol 45:192-204. 2007
    ..with cerebral amyloid angiopathy (CAA), were confirmed by genetic and neuropathological studies, and one case of CADASIL was ultrastructurally confirmed by the presence of vascular granular osmiophilic material...
  89. ncbi CADASIL mutations enhance spontaneous multimerization of NOTCH3
    Christian Opherk
    Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Hum Mol Genet 18:2761-7. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cause of stroke and vascular dementia...
  90. pmc Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
    Marie Monet-Leprêtre
    INSERM U740, Faculté de Médecine Paris 7, Site Villemin, 10 Avenue de Verdun, Paris, France
    Brain 132:1601-12. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor...
  91. pmc CADASIL presenting as status migrainosus and persisting aura without infarction
    Simona Sacco
    Department of Neurology, The Regional Headache Referral Center, University of L Aquila, L Aquila, Italy
    J Headache Pain 10:51-3. 2009
    ..of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  92. ncbi Notch signaling in normal and disease States: possible therapies related to glycosylation
    Raajit Rampal
    Department of Biochemistry and Cell Biology, Institute for Cell and Developmental Biology, Stony Brook University, Stony Brook, New York, 11794 5215, USA
    Curr Mol Med 7:427-45. 2007
    ..have been implicated in an array of human diseases (T-cell leukemia and other cancers, Multiple Sclerosis, CADASIL, Alagille Syndrome, Spondylocostal Dysostosis)...
  93. ncbi Migraine attributed to genetic disorder
    Simona Sacco
    Department of Neurology, University of L Aquila, Italy
    Funct Neurol 22:117-8. 2007
  94. pmc Cognitive profile in CADASIL
    F Buffon
    Department of Neurology, Hopital Lariboisiere, 2 rue Ambroise Pare, 75010, Paris, France
    J Neurol Neurosurg Psychiatry 77:175-80. 2006
    The spectrum of cognitive alterations associated with CADASIL, a model of pure vascular dementia, has not been thoroughly evaluated.
  95. ncbi Diagnostic criteria of vascular dementia in CADASIL
    Sarah Benisty
    Department of Geriatric Medicine, University Paris 7, 2 rue Ambroise Pare, 75010 Paris, France
    Stroke 39:838-44. 2008
    ..Application of these criteria in CADASIL, a genetic model of SIVD, may help to better assess their significance...
  96. pmc Neuropsychiatric manifestations in CADASIL
    Hugues Chabriat
    Department of Neurology, Hopital Lariboisiere, Universite Paris VII, Denis Diderot, Paris, France
    Dialogues Clin Neurosci 9:199-208. 2007
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small-artery disease of mid-adulthood caused by mutations of the NOTCH3 gene...
  97. ncbi Peripheral neuropathy in CADASIL
    Francesco Sicurelli
    Dept of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol 252:1206-9. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene...
  98. ncbi [Clinical features in 4 Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]
    He Lv
    Department of Neurology, Peking University First Hospital, Beijing 100034, China
    Beijing Da Xue Xue Bao 36:496-500. 2004
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebral arteriolar disease in adulthood, which is caused by NOTCH3 gene mutation...
  99. ncbi A new de novo Notch3 mutation causing CADASIL
    E Coto
    Genetica Molecular, Hospital Central de Asturias, Servicio de Salud del Principado de Asturias, Spain
    Eur J Neurol 13:628-31. 2006
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders, or dementia, are also frequently found in ..
  100. ncbi Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL
    Johanna Annunen-Rasila
    Department of Neurology, University of Oulu, Oulu, Finland
    Neurogenetics 7:185-94. 2006
    ..the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, ..
  101. ncbi 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
    Qing Miao
    Department of Pathology, Turku University Hospital and University of Turku, Finland
    Brain Pathol 14:358-64. 2004
    In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) the vascular smooth muscle cells are destroyed and granular osmiophilic material is deposited followed by fibrosis of the arterial ..

Research Grants31

  1. Understanding cell biology of Delta-Notch interactions
    GERALDINE WEINMASTER; Fiscal Year: 2006
    ..Given that the Notch extracellular domain accumulates in brains of CADASIL patients, understanding the fate of NECD is relevant to this inherited vascular dementia...
  2. Notch3 signaling in small-artery-diseases
    Anne Joutel; Fiscal Year: 2009
    ..We identified NotchS as the causative gene of CADASIL, an increasingly recognized autosomal dominant form of systemic small-vessel-disease causing stroke and dementia...
  3. Notch3 in generation and maintenance of the T lineage.
    Howard T Petrie; Fiscal Year: 2013
    ..This phenotype is consistent with a human disease (CADASIL) associated with N3 deficiency (a heritable mutation), which is characterized by age-related (adult-onset) ..
  4. Role of Proteasome Inhibition in the Pathogenesis of CADASIL
    Michael M Wang; Fiscal Year: 2010
    ..In large part, the genetics of these disorders is complex. However, in families with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), premature stroke ..
  5. 2012 Notch Signaling in Development, Regeneration &Disease Gordon Conference
    Raphael Kopan; Fiscal Year: 2012
    ..developmental syndromes (Alagille, Spondylocostal Dysostosis, aortic valve disease), adult onset diseases (CADASIL, various heart and valve malformations, muscular dystrophy, multiple sclerosis) and cause or contribute to cancer ..
  6. Notch, LRP, and MMP in Stroke and Vascular Dementia
    Michael M Wang; Fiscal Year: 2013
    ..human disorder Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a hereditary stroke/dementia disorder caused by mutations in Notch3...
  7. Developmental analysis of SELCT proteins
    ANNE CHURCH HART; Fiscal Year: 2010
    ..Deltas has been implicated in spondylocostal dysostosis. Mutations in NotchS and Jaggedl cause CADASIL and Alagille syndromes, respectively...
  8. LRP regulation of wildtype and CADASIL mutants of Notch3
    Michael M Wang; Fiscal Year: 2013
    ..by applicant): Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a stroke disorder caused by mutations in Notch3...
  9. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..distinct from cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL;OMIM125310)...
  10. Cerebral Amyloid Angiopathy and Related Cerebral Microvasculopathies
    Harry Vinters; Fiscal Year: 2009
    ..from related fields such as the non-amyloid cerebral microangiopathies (including cerebroretinal vasculopathies, CADASIL) and amyloid immunotherapy, including individuals with expertise in biomarkers...
  11. Development of RNAi as Treatment for Neurodegeneration
    KENNETH KOSIK; Fiscal Year: 2005
    ..have been characterized with genetic forms of Alzheimer's disease, Huntington's disease, Parkinson's disease, and CADASIL. Through a variety of collaborations and the persistence of Colombian scientists over many years in the face of ..
  12. Molecular Mechanisms of Segmentation
    Cordelia Rauskolb; Fiscal Year: 2005
    ..and mutations in human Notch pathway genes have been implicated in leukemia (TAN-1), stroke and dementia (CADASIL), and Alagille syndrome, a childhood syndrome resulting in chronic liver disease and segmentation defects...
  13. Notch3 Signaling as a Determinant of Vascular Cell Fate
    Gary Gibbons; Fiscal Year: 2005
    ..arteriopathies, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is a heritable syndrome of systemic small vessel disease predisposing to stroke and vascular dementia...
  14. Role of Notch3 Signaling in Hypertensive Arteriopathy
    MATTHEW POLLMAN; Fiscal Year: 2004
    ..Within the spectrum of identified arteriopathies, CADASIL is a heritable syndrome of systemic small vessel disease predisposing to stroke and vascular dementia...
  15. Aging Brain: DTI, Subcortical Ischemia and Behavioral
    Stephen Salloway; Fiscal Year: 2006
    ..and determine their association with cognition and behavior, j We will recruit a subgroup of subjects with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy) - a relatively ..
  16. NOTCH SIGNALING IN MAMMALIAN CELLS
    GERALDINE WEINMASTER; Fiscal Year: 2002
    ..state during normal development, and Notch is also involved in human disorders of stroke and dementia (CADASIL and Alzheimer's disease), suggesting a role outside of development as well...
  17. Transcriptional Regulation of Enhancer of Split Genes
    DEBORAH EASTMAN; Fiscal Year: 2003
    ..Alterations of genes in the Notch pathway lead to a number of human diseases including tumor production, CADASIL, Allagilles syndrome, and Alzheimer's Disease...
  18. ISGS: The Ischemic Stroke Genetics Study
    JAMES MESCHIA; Fiscal Year: 2006
    ..The application and SWISS share the same definitions for the present and absence of phenotype and key enrollment criteria. ..
  19. Siblings With Ischemic Stroke Study (SWISS)
    JAMES MESCHIA; Fiscal Year: 2009
    ..DNA banking and the creation of permanent lymphoblastoid cell lines will be done to permit future collaborative efforts to study the genetic basis for stroke risk. ..
  20. MECHANISMS OF NEURODEGENERATION AND REGENERATION IN POST-STROKE SURVIVORS
    Raj Kalaria; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  21. GENES FOR VASCULAR MORPHOGENESIS: A GENETIC APPROACH
    Qing Wang; Fiscal Year: 2003
    ..Moreover, understanding the genetic mechanisms underlying KTS offers possibilities for treatment of KTS as well as conditions such as cancer that depend on angiogenesis. ..
  22. GENETIC STUDIES OF ANEURYSMAL SUBARACHNOID HEMORRHAGE
    Mark Alberts; Fiscal Year: 2003
    ..This research project combined with the PI's background and expertise provide a wide range of patient-oriented mentorship opportunities in clinical and genetic research...
  23. Molecular Determinants of Coronary Artery Disease
    Qing Wang; Fiscal Year: 2004
    ..The accomplishment of research objectives in this proposal has the potential to have a substantial impact on the understanding of the molecular mechanism of CAD and MI, thereby facilitating better prevention, diagnosis and therapy. ..
  24. Molecular Mechanisms of Estrogen Neuroprotection
    Michael Wang; Fiscal Year: 2005
    ..The mechanism of how estrogen affects stroke will perhaps foster development of novel treatments for stroke, and may influence hormone replacement regimens for postmenopausal women. ..
  25. Molecular Mechanisms of Cardiac Arrhythmias
    Qing Wang; Fiscal Year: 2005
    ..These studies may provide a new framework for the rational design of therapeutic agents. ..
  26. Frontotemporal degeneration: a basis for clinical trials
    David Knopman; Fiscal Year: 2006
    ..abstract_text> ..
  27. Neurology of Attention and Neglect-A Network Approach
    Marek Marsel Mesulam; Fiscal Year: 2008
    ..The results of these experiments will help to understand the neurological bases of spatial attention and may lead to more rational treatments of hemispatial neglect. ..
  28. Protein interactions with CADASIL-mutants of Notch3
    Michael Wang; Fiscal Year: 2008
    ..In large part, the genetics of these disorders is complex. However, in families with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), premature stroke ..
  29. Modifiers of a Mouse Model of Alagille Syndrome
    Thomas Gridley; Fiscal Year: 2008
    ..These studies will enable us to create more representative mouse models of Alagille syndrome, and should provide insight into the variable phenotypic expression observed in Alagille syndrome patients. [unreadable] [unreadable]..
  30. GENETIC ANALYSIS OF THE NOTCH SIGNALING PATHWAY
    Thomas Gridley; Fiscal Year: 2007
    ..These studies will further our understanding of the roles of the Notch signaling pathway in mammalian development, and will be applicable to the study of both normal development and birth defects in humans. ..
  31. Development of Choroid Plexus and the Blood-CSF Barrier
    Angeliki Louvi; Fiscal Year: 2006
    ....