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Neuropsychiatric Symptoms of Cerebrovascular Diseases pp 219–236Cite as

Neuropsychiatric Symptoms of CADASIL

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Part of the book series: Neuropsychiatric Symptoms of Neurological Disease ((NSND))

Abstract

CADASIL is an inherited small artery disease caused by mutations of the NOTCH3 gene. The disease is responsible for migraine with aura at onset, for transient ischemic attacks and stroke during mid-adulthood, and can lead progressively to dementia. The neuropsychiatric manifestations of CADASIL include mood and behavior disturbances and various degrees of cognitive impairment. They are observed at all stages of the disorder. Episodes of mood disturbances (depression, manic episodes) are reported in 10–20 % of patients during the course of the disease; they are usually observed after the first ischemic events. Apathy is detected in more than one-third of patients several years after onset and alters the quality of life of patients. A marked decline of cognitive performances is detected in the vast majority of subjects with aging, particularly after age 50 years. However, executive dysfunction can be detected earlier, even after the third decade using dedicated cognitive tests. Dementia occurs after 60 years, usually after repeated ischemic event, and is nearly constant at the end stage of the disorder.

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References

  1. Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993;3(3):256–9.

    Article  PubMed  CAS  Google Scholar 

  2. Joutel A, Ducros A, Alamowitch S, Cruaud C, Domenga V, Marechal E, et al. A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region. Genomics. 1996;38(2):192–8.

    Article  PubMed  CAS  Google Scholar 

  3. Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry. 2005;76(5):739–41.

    Article  PubMed  CAS  Google Scholar 

  4. Erkinjuntti T. Subcortical ischemic vascular disease and dementia. Int Psychogeriatr. 2003;15 Suppl 1:23–6. Epub 2005/09/30.

    Article  PubMed  Google Scholar 

  5. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke. 1993;24(1):122–5. Epub 1993/01/01.

    Article  PubMed  CAS  Google Scholar 

  6. Ruchoux MM, Maurage CA. CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol. 1997;56(9):947–64.

    Article  PubMed  CAS  Google Scholar 

  7. Ruchoux MM, Brulin P, Brillault J, Dehouck MP, Cecchelli R, Bataillard M. Lessons from CADASIL. Ann N Y Acad Sci. 2002;977:224–31.

    Article  PubMed  Google Scholar 

  8. Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol. 1995;89(6):500–12.

    Article  PubMed  CAS  Google Scholar 

  9. Davous P, Fallet-Bianco C. Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case. Revue neurologique. 1991;147(5):376–84. Epub 1991/01/01. Demence sous-corticale familiale avec leucoencephalopathie arteriopathique. Observation clinico-pathologique.

    Google Scholar 

  10. Pullicino PM, Miller LL, Alexandrov AV, Ostrow PT. Infraputaminal ‘lacunes’. Clinical and pathological correlations. Stroke. 1995;26(9):1598–602. Epub 1995/09/01.

    Article  PubMed  CAS  Google Scholar 

  11. Okeda R, Arima K, Kawai M. 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. 2002;33(11):2565–9.

    Article  PubMed  Google Scholar 

  12. Miao Q, Paloneva T, Tuominen S, Poyhonen M, Tuisku S, Viitanen M, 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 (Zurich, Switzerland). 2004;14(4):358–64.

    Article  Google Scholar 

  13. Zhang WW, Badonic T, Hoog A, Jiang MH, Ma KC, Nie JX, et al. Structural and vasoactive factors influencing intracerebral arterioles in cases of vascular dementia and other cerebrovascular disease: a review. Immunohistochemical studies on expression of collagens, basal lamina components and endothelin-1. Dementia. 1994;5(3–4):153–62. Epub 1994/05/01.

    PubMed  CAS  Google Scholar 

  14. Gray F, Robert F, Labrecque R, Chretien F, Baudrimont M, Fallet-Bianco C, et al. Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer’s disease. Neuropathol Appl Neurobiol. 1994;20(1):22–30.

    Article  PubMed  CAS  Google Scholar 

  15. Mikol J, Henin D, Baudrimont M, Gaulier A, Bacri D, Tillier JN, et al. Atypical CADASIL phenotypes and pathological findings in two new French families. Revue neurologique. 2001;157(6–7):655–67. CADASIL: aspects phenotypiques inhabituels et observations anatomo-pathologiques dans deux nouvelles familles francaises.

    Google Scholar 

  16. Bergmann M, Ebke M, Yuan Y, Bruck W, Mugler M, Schwendemann G. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family. Acta Neuropathol. 1996;92(4):341–50.

    Article  PubMed  CAS  Google Scholar 

  17. Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Shungu DC, et al. CADASIL in a North American family: clinical, pathologic, and radiologic findings. Neurology. 1998;51(3):844–9.

    Article  PubMed  CAS  Google Scholar 

  18. Filley CM, Thompson LL, Sze CI, Simon JA, Paskavitz JF, Kleinschmidt-DeMasters BK. White matter dementia in CADASIL. J Neurol Sci. 1999;163(2):163–7.

    Article  PubMed  CAS  Google Scholar 

  19. Gutierrez-Molina M, Caminero Rodriguez A, Martinez Garcia C, Arpa Gutierrez J, Morales Bastos C, Amer G. Small arterial granular degeneration in familial Binswanger’s syndrome. Acta Neuropathol. 1994;87(1):98–105. Epub 1994/01/01.

    Article  PubMed  CAS  Google Scholar 

  20. 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  PubMed  CAS  Google Scholar 

  21. Villa N, Walker L, Lindsell CE, Gasson J, Iruela-Arispe ML, Weinmaster G. Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels. Mech Dev. 2001;108(1–2):161–4.

    Article  PubMed  CAS  Google Scholar 

  22. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350(9090):1511–5.

    Article  PubMed  CAS  Google Scholar 

  23. 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  PubMed  CAS  Google Scholar 

  24. Joutel A, Tournier-Lasserve E. Notch signalling pathway and human diseases. Semin Cell Dev Biol. 1998;9(6):619–25.

    Article  PubMed  CAS  Google Scholar 

  25. Gray GE, Mann RS, Mitsiadis E, Henrique D, Carcangiu ML, Banks A, et al. Human ligands of the Notch receptor. Am J Pathol. 1999;154(3):785–94.

    Article  PubMed  CAS  Google Scholar 

  26. Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway. Am J Hum Genet. 2004;74(2):338–47.

    Article  PubMed  CAS  Google Scholar 

  27. 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  PubMed  CAS  Google Scholar 

  28. Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol. 2005;62(7):1091–4.

    Article  PubMed  Google Scholar 

  29. Joutel A, Tournier-Lasserve E. Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain. Journal de la Societe de biologie. 2002;196(1):109–15. Bases moleculaires et mecanismes physiopathogeniques de CADASIL: un modele de maladie des petites arteres cerebrales.

    Google Scholar 

  30. Robinson W, Galetta SL, McCluskey L, Forman MS, Balcer LJ. Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). Surv Ophthalmol. 2001;45(5):445–8.

    Article  PubMed  CAS  Google Scholar 

  31. Schroder JM, Sellhaus B, Jorg J. 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. 1995;89(2):116–21.

    Article  PubMed  CAS  Google Scholar 

  32. Goebel HH, Meyermann R, Rosin R, Schlote W. Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin. Muscle Nerve. 1997;20(5):625–7.

    Article  PubMed  CAS  Google Scholar 

  33. 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  PubMed  CAS  Google Scholar 

  34. Chabriat H, Joutel A, Vahedi K, Iba-Zizen MT, Tournier-Lasserve E, Bousser MG. CADASIS. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalophathy. Revue neurologique. 1997;153(6–7):376–85. CADASIS. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalophathy.

    Google Scholar 

  35. Ebke M, Dichgans M, Bergmann M, Voelter HU, Rieger P, Gasser T, et al. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand. 1997;95(6):351–7.

    Article  PubMed  CAS  Google Scholar 

  36. Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology. 1997;49(5):1322–30.

    Article  PubMed  CAS  Google Scholar 

  37. Ruchoux MM, Domenga V, Brulin P, Maciazek J, Limol S, Tournier-Lasserve E, et al. Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Am J Pathol. 2003;162(1):329–42.

    Article  PubMed  CAS  Google Scholar 

  38. Lacombe P, Oligo C, Domenga V, Tournier-Lasserve E, Joutel A. Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy. Stroke. 2005;36(5):1053–8.

    Article  PubMed  Google Scholar 

  39. Dubroca C, Lacombe P, Domenga V, Maciazek J, Levy B, Tournier-Lasserve E, et al. Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. Stroke. 2005;36(1):113–7.

    Article  PubMed  Google Scholar 

  40. Joutel A, Monet-Lepretre M, Gosele C, Baron-Menguy C, Hammes A, Schmidt S, et al. Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease. J Clin Invest. 2010;120(2):433–45. Epub 2010/01/15.

    Article  PubMed  CAS  Google Scholar 

  41. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009;8(7):643–53. Epub 2009/06/23.

    Article  PubMed  Google Scholar 

  42. Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44(5):731–9.

    Article  PubMed  CAS  Google Scholar 

  43. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346(8980):934–9.

    Article  PubMed  CAS  Google Scholar 

  44. 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  PubMed  CAS  Google Scholar 

  45. Chabriat H, Bousser MG. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): a new genetic disease of the cerebral arteries associated with vascular leukoencephalopathies. La Revue du praticien. 2000;50(6):585–8. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): une nouvelle maladie genetique des arteres cerebrales au sein des leucoencephalopathies d’origine vasculaire.

    Google Scholar 

  46. 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 

  47. Kumar SK, Mahr G. CADASIL presenting as bipolar disorder. Psychosomatics. 1997;38(4):397–8.

    Article  PubMed  CAS  Google Scholar 

  48. Ahearn EP, Speer MC, Chen YT, Steffens DC, Cassidy F, Van Meter S, et al. Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. Am J Med Genet. 2002;114(6):652–8.

    Article  PubMed  Google Scholar 

  49. Aylward EH, Roberts-Twillie JV, Barta PE, Kumar AJ, Harris GJ, Geer M, et al. Basal ganglia volumes and white matter hyperintensities in patients with bipolar disorder. Am J Psychiatry. 1994;151(5):687–93. Epub 1994/05/01.

    PubMed  CAS  Google Scholar 

  50. Brookes RL, Willis TA, Patel B, Morris RG, Markus HS. 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. Int J Stroke. 2012. Epub 2012/03/01.

    Google Scholar 

  51. Thomas N, Mathews T, Loganathan A. Cadasil: presenting as a mood disorder. Scott Med J. 2002;47(2):36–7.

    PubMed  CAS  Google Scholar 

  52. Leyhe T, Wiendl H, Buchkremer G, Wormstall H. CADASIL: underdiagnosed in psychiatric patients? Acta Psychiatr Scand. 2005;111(5):392–6; discussion 6–7.

    Article  PubMed  CAS  Google Scholar 

  53. Marin RS. Apathy: concept, syndrome, neural mechanisms, and treatment. Semin Clin Neuropsychiatry. 1996;1(4):304–14. Epub 1996/10/01.

    PubMed  Google Scholar 

  54. Marin RS. Apathy: a neuropsychiatric syndrome. J Neuropsychiatry Clin Neurosci. 1991;3(3):243–54. Epub 1991/01/01.

    PubMed  CAS  Google Scholar 

  55. Levy E, Jaskolski M, Grubb A. The role of cystatin C in cerebral amyloid angiopathy and stroke: cell biology and animal models. Brain Pathol. 2006;16(1):60–70. Epub 2006/04/15.

    Article  PubMed  CAS  Google Scholar 

  56. Starkstein SE, Leentjens AF. The nosological position of apathy in clinical practice. J Neurol Neurosurg Psychiatry. 2008;79(10):1088–92. Epub 2008/01/12.

    Article  PubMed  CAS  Google Scholar 

  57. Starkstein SE, Fedoroff JP, Price TR, Leiguarda R, Robinson RG. Apathy following cerebrovascular lesions. Stroke. 1993;24(11):1625–30. Epub 1993/11/01.

    Article  PubMed  CAS  Google Scholar 

  58. Reyes S, Kurtz A, Herve D, Tournier-Lasserve E, Chabriat H. Presymptomatic genetic testing in CADASIL. J Neurol. 2012;259:2131–6.

    Article  PubMed  CAS  Google Scholar 

  59. Jouvent E, Reyes S, Mangin JF, Roca P, Perrot M, Thyreau B, et al. Apathy is related to cortex morphology in CADASIL. A sulcal-based morphometry study. Neurology. 2011;76(17):1472–7. Epub 2011/04/27.

    Article  PubMed  CAS  Google Scholar 

  60. Verin M, Rolland Y, Landgraf F, Chabriat H, Bompais B, Michel A, et al. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry. 1995;59(6):579–85.

    Article  PubMed  CAS  Google Scholar 

  61. 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. Epub 2009/03/11.

    Article  PubMed  CAS  Google Scholar 

  62. Lagas 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  CAS  Google Scholar 

  63. Trojano L, Ragno M, Manca A, Caruso G. A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up. J Neurol. 1998;245(4):217–22.

    Article  PubMed  CAS  Google Scholar 

  64. Lesnik Oberstein SA, van den Boom R, Middelkoop HA, Ferrari MD, Knaap YM, van Houwelingen HC, et al. Incipient CADASIL. Arch Neurol. 2003;60(5):707–12.

    Article  PubMed  Google Scholar 

  65. 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  PubMed  CAS  Google Scholar 

  66. Amberla K, Waljas M, Tuominen S, Almkvist O, Poyhonen M, Tuisku S, et al. Insidious cognitive decline in CADASIL. Stroke. 2004;35(7):1598–602.

    Article  PubMed  Google Scholar 

  67. Holtmannspotter M, Peters N, Opherk C, Martin D, Herzog J, Bruckmann 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 

  68. Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K, et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 2006;77(2):175–80.

    Article  PubMed  CAS  Google Scholar 

  69. Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A, et al. Patterns of MRI lesions in CADASIL. Neurology. 1998;51(2):452–7.

    Article  PubMed  CAS  Google Scholar 

  70. Epelbaum S, Benisty S, Reyes S, O’Sullivan M, Jouvent E, During M, et al. Verbal memory impairment in subcortical ischemic vascular disease: a descriptive analysis in CADASIL. Neurobiol Aging. 2011;32(12):2172–82. Epub 2010/02/13.

    Article  PubMed  CAS  Google Scholar 

  71. Hedera P, Friedland RP. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: study of two American families with predominant dementia. J Neurol Sci. 1997;146(1):27–33.

    Article  PubMed  CAS  Google Scholar 

  72. Chabriat H, Tournier-Lasserve E, Vahedi K, Leys D, Joutel A, Nibbio A, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology. 1995;45(6):1086–91.

    Article  PubMed  CAS  Google Scholar 

  73. Peters N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials. Stroke. 2004;35(7):1603–8.

    Article  PubMed  Google Scholar 

  74. Molko N, Pappata S, Mangin JF, Poupon C, Vahedi K, Jobert A, et al. Diffusion tensor imaging study of subcortical gray matter in cadasil. Stroke. 2001;32(9):2049–54.

    Article  PubMed  CAS  Google Scholar 

  75. Zekry D, Duyckaerts C, Belmin J, Geoffre C, Moulias R, Hauw JJ. Cerebral amyloid angiopathy in the elderly: vessel walls changes and relationship with dementia. Acta Neuropathol. 2003;106(4):367–73. Epub 2003/08/05.

    Article  PubMed  CAS  Google Scholar 

  76. Gunda B, Herve 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. Epub 2011/10/29.

    Article  PubMed  Google Scholar 

  77. Dichgans M, Filippi M, Bruning R, Iannucci G, Berchtenbreiter C, Minicucci L, et al. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. Neurology. 1999;52(7):1361–7.

    Article  PubMed  CAS  Google Scholar 

  78. Chabriat H, Mrissa R, Levy C, Vahedi K, Taillia H, Iba-Zizen MT, et al. Brain stem MRI signal abnormalities in CADASIL. Stroke. 1999;30(2):457–9.

    Article  PubMed  CAS  Google Scholar 

  79. Coulthard A, Blank SC, Bushby K, Kalaria RN, Burn DJ. Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br J Radiol. 2000;73(867):256–65.

    PubMed  CAS  Google Scholar 

  80. Auer DP, Putz B, Gossl C, Elbel G, Gasser T, Dichgans M. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology. 2001;218(2):443–51.

    PubMed  CAS  Google Scholar 

  81. 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.

    Article  PubMed  Google Scholar 

  82. 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  PubMed  CAS  Google Scholar 

  83. Iwatsuki K, Murakami T, Manabe Y, Narai H, Warita H, Hayashi T, et al. Two cases of Japanese CADASIL with corpus callosum lesion. Tohoku J Exp Med. 2001;195(2):135–40.

    Article  PubMed  CAS  Google Scholar 

  84. van Den Boom R, Lesnik Oberstein SA, van Duinen SG, Bornebroek M, Ferrari MD, Haan J, et al. Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Radiology. 2002;224(3):791–6.

    Article  Google Scholar 

  85. Chabriat H. Diffusion histograms in CADASIL. Stroke. 2005;36(12):2526.

    Article  PubMed  Google Scholar 

  86. Tatsch K, Koch W, Linke R, Poepperl G, Peters N, Holtmannspoetter M, et al. Cortical hypometabolism and crossed cerebellar diaschisis suggest subcortically induced disconnection in CADASIL: an 18F-FDG PET study. J Nucl Med. 2003;44(6):862–9.

    PubMed  Google Scholar 

  87. Mesulam M, Siddique T, Cohen B. Cholinergic denervation in a pure multi-infarct state: observations on CADASIL. Neurology. 2003;60(7):1183–5.

    Article  PubMed  Google Scholar 

  88. Viswanathan A, Gray F, Bousser MG, Baudrimont M, Chabriat H. Cortical neuronal apoptosis in CADASIL. Stroke. 2006;37(11):2690–5.

    Article  PubMed  Google Scholar 

  89. Gray F, Polivka M, Viswanathan A, Baudrimont M, Bousser MG, Chabriat H. Apoptosis in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol. 2007;66(7):597–607.

    Article  PubMed  Google Scholar 

  90. O’Sullivan M. Diffusion tensor MRI correlates with executive dysfunction in patients with ischaemic leukoaraiosis. J Neurol Neurosurg Psychiatry. 2004;75(3):441–7.

    Article  PubMed  Google Scholar 

  91. 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 

  92. Duering M, Zieren N, Herve 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. Epub 2011/07/19.

    Article  PubMed  Google Scholar 

  93. Jouvent E, Mangin JF, Duchesnay E, Porcher R, During M, Mewald Y, et al. Longitudinal changes of cortical morphology in CADASIL. Neurobiol Aging. 2012;33(5):1002.e29–36.

    Article  Google Scholar 

  94. Vahedi K, Chabriat H, Levy C, Joutel A, Tournier-Lasserve E, Bousser MG. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol. 2004;61(8):1237–40.

    Article  PubMed  Google Scholar 

  95. Schon F, Martin RJ, Prevett M, Clough C, Enevoldson TP, Markus HS. “CADASIL coma”: an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry. 2003;74(2):249–52.

    Article  PubMed  CAS  Google Scholar 

  96. Le Ber I, Carluer L, Derache N, Lalevee C, Ledoze F, Defer GL. Unusual presentation of CADASIL with reversible coma and confusion. Neurology. 2002;59(7):1115–6.

    Article  PubMed  Google Scholar 

  97. Feuerhake F, Volk B, Ostertag CB, Jungling FD, Kassubek J, Orszagh M, et al. Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. Acta Neuropathol. 2002;103(2):188–92.

    Article  PubMed  CAS  Google Scholar 

  98. Bousser MG, Tournier-Lasserve E. Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19–21, 1993. Stroke. 1994;25(3):704–7.

    Google Scholar 

  99. 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 

  100. Malandrini A, Carrera P, Ciacci G, Gonnelli S, Villanova M, Palmeri S, et al. Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy. Neurology. 1997;48(5):1200–3.

    Article  PubMed  CAS  Google Scholar 

  101. Van Gerpen JA, Ahlskog JE, Petty GW. Progressive supranuclear palsy phenotype secondary to CADASIL. Parkinsonism Relat Disord. 2003;9(6):367–9.

    Article  PubMed  Google Scholar 

  102. 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 

  103. Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, et al. An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol. 1995;38(2):231–6.

    Article  PubMed  CAS  Google Scholar 

  104. Lv H, Yao S, Zhang W, Wang ZX, Huang YN, Niu XY, et al. Clinical features in 4 Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Beijing Da Xue Xue Bao. 2004;36(5):496–500.

    PubMed  Google Scholar 

  105. 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 

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Authors and Affiliations

  1. Department of Neurology, Hopital Lariboisière, APHP, Université Paris VII, Denis Diderot, 2 rue Ambroise Paré, Paris, 75010, France

    Hugues Chabriat & Sonia Reyes

  2. CERVCO, Université Paris VII, Denis Diderot, Paris, France

    Hugues Chabriat & Sonia Reyes

  3. INSERM UMR740, Université Paris VII, Denis Diderot, Paris, France

    Hugues Chabriat

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  1. Hugues Chabriat
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  2. Sonia Reyes
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Correspondence to Hugues Chabriat .

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  1. , Serviço de Neurologia, Hospital de Santa Maria, Av. Prof. Egas Moniz, Lisboa, 1649-035, Portugal

    José M. Ferro

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Chabriat, H., Reyes, S. (2013). Neuropsychiatric Symptoms of CADASIL. In: Ferro, J. (eds) Neuropsychiatric Symptoms of Cerebrovascular Diseases. Neuropsychiatric Symptoms of Neurological Disease. Springer, London. https://doi.org/10.1007/978-1-4471-2428-3_10

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