Cadasil: Pathogenesis, clinical and radiological findings and treatment;Cadasil: Patogênese, achados clínicos e radiológicos e tratamento

Arquivos de Neuro-Psiquiatria

Volumn 68, Issue 2, 2010, Pages 287-299

  André, Charles ^a  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

CADASIL; Diagnosis; Etiology; Genetics; Therapeutics

Indexed keywords

ARGININE; ATORVASTATIN; DONEPEZIL; METHIONINE; PLACEBO;

BLOOD PRESSURE REGULATION; BRAIN INFARCTION; CADASIL; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; DEMENTIA; ELECTROPHYSIOLOGY; EPILEPSY; FAMILY HISTORY; GENETIC SCREENING; HUMAN; MENTAL DISEASE; MIGRAINE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHYSICIAN; REVIEW; SKIN BIOPSY; TREATMENT INDICATION; VISUAL IMPAIRMENT;

EID: 77953764636     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2010000200026     Document Type: Review

References (147)

1. Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 1993;3:256-259.
2. Joutel A, Bousser MG, Biousse V, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993;5:40-45.
3. Rajput V, Kramer ED. Adult onset familial hemiplegic migraine. Headache 1995;35:423-427.
4. Joutel A, Ducros A, Alamowitch S, et al. A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region. Genomics 1996;38:192-198.
5. Joutel A, Corpechot C, Ducros A, et al. Notch-3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710.
6. Monet M, Domenga V, Lemaire B, et al. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Hum Mol Genet 2007;16:982-992.
7. Joutel A, Corpechot C, Ducros A, 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;826:213-217.
8. Wang T, Baron B, Trump D. An overview of Notch3 function in vascular smooth muscle cells. Progr Biophys Molec Biol 2008;96:499-509.
9. Markus HS, Martin RJ, Simpson MA, et al. Diagnostic strategies in CADASIL. Neurology 2002;59:1134-1138.
10. 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; 62:1091-1094.
11. Lesnik Oberstein SA, Jukema JW, van Duinen SG, et al. Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Medicine 2003; 82:251-256.
12. Iso T, Hamamori Y, Kedes L. Notch signaling in vascular development. Arterioscler Thromb Vasc Biol 2003; 23:543-553.
13. Alva JA, Iruela-Arispe ML. Notch signaling in vascular morphogenesis. Curr Opin Hematol 2004; 11:278-283.
14. 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;108:161-164.
15. Ishiko A, Shimizu A, Nagata E, Takahashi K, Tabira T, Suzuki N.Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. Acta Neuropathol 2006;112:333-339.
16. Dubroca C, Lacombe P, Domenga V, et al. Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. Stroke 2005; 36:113-117.
17. Gobron C, Vahedi K, Vicaut E, et al. Characteristic features of in vivo skin microvascular reactivity in CADASIL. J Cereb Blood Flow Metab 2007; 27:250-257.
18. Stenborg A, Kalimo H, Viitanen M, Terent A, Lind L. Impaired endothelial function of forearm resistance arteries in CADASIL patients. Stroke 2007; 38:2692-2697.
19. Ruchoux MM, Domenga V, Brulin P, 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; 162:329-342.
20. 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; 36:1053-1058.
21. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke 1993; 24:122-125.
22. 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;33:2565-2569.
23. Miao Q, Paloneva T, Tuominen S, 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 2004;14:358-364.
24. Davous P, Fallet-Bianco C. Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case. Rev Neurol 1991;147:376-384.
25. Cumurciuc R, Guichard JP, Reizine D, Gray F, Bousser MG, Chabriat H. Dilation of Virchow-Robin spaces in CADASIL. Eur J Neurol 2006;13:187-190.
26. Macri MA, Colonnese C, Garreffa G, et al. A chemical shift imaging study on regional metabolite distribution in a CADASIL family. Magn Reson Imaging 2006; 24:443-447.
27. 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; 89:500-512.
28. Ruchoux MM, Maurage CA. CADASIL cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol 1997;56:947-964.
29. Zhang WW, Ma KC, Andersen O, Sourander P, Tollesson PO, Olsson Y. The microvascular changes in cases of hereditary multi-infarct disease of the brain. Acta Neuropathol 1994; 87:317-324.
30. Gladstone JP, Dodick DW. Migraine and cerebral white matter lesions: when to suspect cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Neurologist 2005;11:19-29.
31. Hervé D, Mangin JF, Molko N, Bousser MG, Chabriat H. Shape and volume of lacunar infarcts: a 3D MRI study in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2005; 36:2384-2388.
32. Razvi SS, Davidson R, Bone I, Muir KW. Is inadequate family history a barrier to diagnosis in CADASIL? Acta Neurol Scand 2005;112:323-326.
33. Peters N, Opherk C, Zacherle S, Capell A, Gempel P, Dichgans M. CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. Exp Cell Res 2004;299:454-464.
34. Milunsky A, Konialis C, Shim SH, et al.The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. Prenat Diagn 2005;25:1057-1058.
35. Schultz A, Santoianni R, Hewan-Lowe K. Vasculopathic changes of CADASIL can be focal in skin biopsies. Ultrastruct Pathol 1999;23:241-247.
36. 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;74:338-34
37. Tuominen S, Juvonen V, Amberla K, et al. Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. Stroke 2001;32:1767-1774.
38. van den Boom R, Lesnick Oberstein SA, van den Berg-Huysmans AA, Ferrari MD, van Buchem MA, Haan J. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: structural MR imaging changes and apolipoprotein E genotype. AJNR Am J Neuroradiol 2006;27:359-362.
39. 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;35:1603-1608.
40. Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain 2004;127:2533-2539.
41. Fattapposta F, Restuccia R, Pirro C, et al. Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI. Funct Neurol 2004;19:239-242.
42. Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, et al. Patterns of MRI lesions in CADASIL. Neurology 1998;51:452-457.
43. 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;61:1237-1240.
44. Vérin M, Rolland Y, Landgraf F, 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;59:579-585.
45. Mourad A, Levasseur M, Bousser MG, Chabriat H. CADASIL with minimal symptoms after 60 years. Rev Neurol 2006;16:827-831.
46. Pescini F, Bianchi S, Salvadori E, et al. A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient. J Neurol Sci 2008;267:170-173.
47. Pradotto L, Azan G, Doriguzzi C, Valentini C, Mauro A. Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene. Neurol Sci 2008;271:207-210.
48. 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;30:1230-1233.
49. Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 1995;346:934-939.
50. Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998;44:731-739.
51. Vahedy K, Chabriat H, Ducros A, et al. Analysis of CADASIL clinical natural history in a series of 134 patients belonging to 17 families linked to chromosome 19. Neurology 1996;46:A211 [abstract].
52. Sabbadini G, Francia A, Calandriello L, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 1995;118:207-215.
53. Mellies JK, Bäumer T, Müller JA, et al. SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. Neurology 1998;50:1715-1721.
54. Hutchinson M, O'Riordan J, Javed M, et al. Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol 1995;38:817-824.
55. Le Ber I, Carluer L, Derache N, Lalevée C, Ledoze F, Defer GL. Unusual presentation of CADASIL with reversible coma and confusion. Neurology 2002;59: 1115-1116.
56. Chabriat H, Tournier-Lasserve E, Vahedi K, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology 1995;45:1086-1091.
57. Weller M, Dichgans J, Klockgether T. Acetazolamide-responsive migraine in CADASIL. Neurology 1998;50:1505.
58. Forteza AM, Brozman B, Rabinstein AA, Romano JG, Bradley WG. Acetazolamide for the treatment of migraine with aura in CADASIL. Neurology 2001; 57:2144-2145.
59. Roine S, Pöyhönen M, Timonen S, et al. Neurologic symptoms are common during gestation and puerperium in CADASIL. Neurology 2005;64:1441-1443.
60. Hervé D, Mangin JF, Molko N, Bousser MG, Chabriat H.Shape and volume of lacunar infarcts: a 3D MRI study in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2005;36:2384-2388.
61. Choi EJ, Choi CG, Kim JS. Large cerebral artery involvement in CADASIL. Neurology 2005;65:1322-1324.
62. Moon SY, Ki CS, Kim JW, Suh YL, Kwon JC, Na DL. Silent infarcts demonstrated by diffusion-weighted MRI in CADASIL. Eur Neurol 2003;49:178-180.
63. O'Sullivan M, Rich PM, Barrick TR, Clark CA, Markus HS. Frequency of subclinical lacunar infarcts in ischemic leukoaraiosis and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. AJNR Am J Neuroradiol 2003;24:1348-1354.
64. Gobron C, Viswanathan A, Bousser MG, Chabriat H. Multiple simultaneous cerebral infarctions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Cerebrovasc Dis 2006;22:445-446.
65. Maclean AV, Woods R, Alderson LM, et al. Spontaneous lobar haemorrhage in CADASIL. J Neurol Neurosurg Psychiatry 2005;76:456-457.
66. Oh JH, Lee JS, Kang SY, Kang JH, Choi JC. Aspirin-associated intracerebral hemorrhage in a patient with CADASIL. Clin Neurol Neurosurg 2008;110:384-386.
67. Choi JC, Kang SY, Kang JH, Park JK. Intracerebral hemorrhages in CADASIL. Neurology 2006;67:2042-2044.
68. Lesnik Oberstein SA, van den Boom R, van Buchem MA, et al. Dutch CADASIL Research Group. Cerebral microbleeds in CADASIL. Neurology 2001;57:1066-1070.
69. Dichgans M, Holtmannspötter M, Herzog J, Peters N, Bergmann M, Yousry TA. Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. Stroke 2002;33:67-71.
70. Viswanathan A, Guichard JP, Gschwendtner A, et al. Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study. Brain 2006;129:2375-2383.
71. Valko PO, Siccoli MM, Schiller A, Wieser HG, Jung HH.Non-convulsive status epilepticus causing focal neurological deficits in CADASIL. J Neurol Neurosurg Psychiatry 2007;78:1287-1289.
72. Schon F, Martin RJ, Prevett M, Clough C, Enevoldson TP, Markus HS. CADASIL coma": an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry 2003;74:249-252.
73. Kleinig TJ, Kimber T, Thompson PD. Acute encephalopathy as the initial symptom of CADASIL. Intern Med J 2007;37:786-787.
74. Feuerhake F, Volk B, Ostertag CB, et al. Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. Acta Neuropathol 2002;103:188-192.
75. Valenti R, Poggesi A, Pescini F, Inzitari D, Pantoni L. Psychiatric disturbances in CADASIL: a brief review. Acta Neurol Scand 2008;118:291-295.
76. Kumar SK, Mahr G. CADASIL presenting as bipolar disorder. Psychosomatics 1997;38:397-398.
77. Aylward EH, Roberts-Twillie JV, Barta PE, et al. Basal ganglia volumes and white matter hyperintensities in patients with bipolar disorder. Am J Psychiatry 1994;151:687-693.
78. Bhatia KP, Marsden CD. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 1994;117:859-876.
79. Lågas PA, Juvonen V. Schizophrenia in a patient with cerebral autosomally dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL disease). Nord J Psychiatry 2001;55:41-42.
80. Pantoni L, Pescini F, Inzitari D, Dotti MT. Postpartum psychiatric disturbances as an unrecognized onset of CADASIL. Acta Psychiatr Scand 2005;112:241.
81. Leyhe T, Wiendl H, Buchkremer G, Wormstall H. CADASIL: underdiagnosed in psychiatric patients? Acta Psychiatr Scand 2005;111:392-396.
82. 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;245:217-222.
83. Henao-Arboleda E, Aguirre-Acevedo DC, Pacheco C, Yamile-Bocanegra O, Lopera F. Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia. Rev Neurol 2007;45:729-733.
84. Taillia H, Chabriat H, Kurtz A, et al. Cognitive alterations in non-demented CADASIL patients. Cerebrovasc Dis 1998;8:97-101.
85. Joutel A, Tournier-Lasserve E. Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain. J Soc Biol 2002;196:109-115.
86. Buffon F, Porcher R, Hernandez K, et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry 2006;77:155-180.
87. Amberla K, Wäljas M, Tuominen S, et al. Insidious cognitive decline in CADASIL. Stroke 2004;35:1598-1602.
88. 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;162:2078-2085.
89. Holtmannspötter M, Peters N, Opherk C, 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;36:2559-2565.
90. Charlton RA, Morris RG, Nitkunan A, Markus HS. The cognitive profiles of CADASIL and sporadic small vessel disease. Neurology 2006;66:1523-1526.
91. Grober E, Buschke H, Crystal H, Bang S, Dresner R. Screening for dementia by memory testing. Neurology 1988;38:900-903.
92. Chabriat H, Bousser M-G. Neuropsychiatric manifestations in CADASIL. Dialogues Clin Neurosc 2007;9:199-208.
93. Almhvist O. Cognitive syndrome(s) in preclinical and clinical vascular dementia. Int Psychogeriatr 2003;15 (Suppl 1):S127-S131.
94. Benisty S, Hernandez K, Viswanathan A, et al. Diagnostic criteria of vascular dementia in CADASIL. Stroke 2008;39:838-844.
95. O'Sullivan M, Ngo E, Viswanathan A, et al. Hippocampal volume is an independent predictor of cognitive performance in CADASIL. Neurobiol Aging 2007 Oct 24.[Epub ahead of print-January 2009]
96. Viswanathan A, Gschwendtner A, Guichard JP, et al. Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL. Neurology 2007;69:172-179.
97. Liem MK, van der Grond J, Haan J, et al. Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL. Stroke 2007;38:923-928.
98. 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;65:1584-1590.
99. Bruening R, Dichgans M, Berchtenbreiter C, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: decrease in regional cerebral blood volume in hyperintense subcortical lesions inversely correlates with disability and cognitive performance. AJNR Am J Neuroradiol 2001;22:1268-1274.
100. O'Sullivan M, Singhal S, Charlton R, Markus HS. Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia. Neurology 2004 Mar 9;62:702-707.
101. Van Gerpen JA, Ahlskog JE, Petty GW. Progressive supranuclear palsy phenotype secondary to CADASIL. Parkinsonism Relat Disord 2003;9:367-369.
102. Miranda M, Dichgans M, Slachevsky A, et al. CADASIL presenting with a movement disorder: a clinical study of a Chilean kindred. Mov Disord 2006;21:1008-1012.
103. Wegner F, Strecker K, Schwarz J, Wagner A, Heinritz W, Sommerer F, Thal DR, Schneider JP, Kendziorra K, Sabri O. Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system. J Neurol 2007;254:1743-1745.
104. Iwatsuki K, Murakami T, Manabe Y, et al. Two cases of Japanese CADASIL with corpus callosum lesion. Tohoku J Exp Med 2001;195:135-140.
105. Felician O, Barbeau E, Gavaret M, et al. A case of late-onset CADASIL with interhemispheric disconnection features. J Neurol 2003;250:1242-1244.
106. Pantoni L, Sarti C, Pescini F, et al. Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients. Eur J Neurol 2004;11:782-787.
107. Schmidley JW, Beadle BA, Trigg L. Co-occurrence of CADASIL and isolated CNS angiitis. Cerebrovasc Dis 2005;19:352-354.
108. Pescini F, Sarti C, Pantoni L, et al. Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. Acta Neurol Scand 2006; 113:62-53.
109. Ravaglia S, Costa A, Santorelli FM, Nappi G, Moglia A. Retinal migraine as unusual feature of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Cephalalgia 2004;24:74-77.
110. Parisi V, Pierelli F, Malandrini A, et al. Visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Clin Neurophysiol 2000;111:1582-1588.
111. Parisi V, Pierelli F, Fattapposta F, et al. Early visual function impairment in CADASIL. Neurology 2003;60:2008-2010.
112. Haritoglou C, Rudolph G, Hoops JP, Opherk C, Kampik A, Dichgans M. Retinal vascular abnormalities in CADASIL. Neurology 2004;62:1202-1205.
113. Rufa A, De Stefano N, Dotti MT, et al. Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol 2004;61:577-580.
114. Cumurciuc R, Massin P, Pâques M, et al. Retinal abnormalities in CADASIL: a retrospective study of 18 patients. J Neurol Neurosurg Psychiatry 2004; 75:1058-1060.
115. Rufa A, Malandrini A, Dotti MT, Berti G, Salvadori C, Federico A. Typical pathological changes of CADASIL in the optic nerve. Neurol Sci 2005;26:271-274.
116. Roine S, Harju M, Kivelä TT, et al. Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study. Ophthalmology 2006;113:1411-1417.
117. Matsumoto H, Tsumoto M, Yamamoto T, et al. A case of early stage CADASIL showing only dizziness and vertigo with a novel mutation of Notch 3 gene. Rinsho Shinkeigaku 2005;45:27-31.
118. Phillips JS, King JA, Chandran S, Prinsley PR, Dick D. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with sudden sensorineural hearing loss. J Laryngol Otol 2005;119:148-151.
119. Rufa A, Cerase A, Monti L, et al. Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL). J Neurol Sci 2008;271:211-213.
120. Sicurelli F, Dotti MT, De Stefano N, et al. Peripheral neuropathy in CADASIL. J Neurol 2005;252:1206-1209.
121. Schröder JM, Züchner S, Dichgans M, Nagy Z, Molnar MJ. Peripheral nerve and skeletal muscle involvement in CADASIL. Acta Neuropathol 2005;110:587-599.
122. Finsterer J. Neuromuscular implications in CADASIL. Cerebrovasc Dis 2007;24: 401-404.
123. Skowrońska M, Lewandowska E, Członkowska A. Co-existing spinal canal tumours and CADASIL: a diagnostic challenge. Neurol Neurochir Pol 2006; 40:526-529.
124. Cumurciuc R, Henry P, Gobron C, et al. Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study. Stroke 2006;37:1100-1102.
125. Yamada H, Yasuda T, Kotorii S, Takahashi K, Tabira T, Sunada Y. Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene-association with alopecia and lumbar herniated disk. Rinsho Shinkeigaku 2001;41:144-146.
126. Ratzinger G, Ransmayr G, Romani N, Zelger B. CADASIL-an unusual manifestation with prominent cutaneous involvement. Br J Dermatol 2005;152:346-349.
127. Kusaba T, Hatta T, Kimura T, et al. Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Clin Nephrol 2007;67:182-187.
128. Saiki S, Sakai K, Saiki M, et al. Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene. Neurology. 2006;67:337-339.
129. Raghu C, Loubeyre C, Obadia E, Morice MC. Primary angioplasty in CADASIL. Catheter Cardiovasc Interv 2003;59:235-237.
130. Dieu JH, Veyckemans F. Perioperative management of a CADASIL type arteriopathy patient. Br J Anaesth 2003;91:442-444.
131. Reddy H, De Stefano N, Mortilla M, Federico A, Matthews PM. Functional reorganization of motor cortex increases with greater axonal injury from CADASIL. Stroke 2002;33:502-508.
132. Molko N, Pappata S, Mangin JF, et al. Monitoring disease progression in CADASIL with diffusion magnetic resonance imaging: a study with whole brain histogram analysis. Stroke 2002;33:2902-2908.
133. van den Boom R, Lesnik Oberstein SA, Ferrari MD, Haan J, van Buchem MA. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages--3rd-6th decades. Radiology 2003;229:683-690.
134. Singhal S, Rich P, Markus HS. The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features. AJNR Am J Neuroradiol 2005;26:2481-2487.
135. Peters N, Holtmannspötter M, Opherk C, et al. Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease. Neurology 2006;66:1517-1522.
136. Manabe Y, Murakami T, Iwatsuki K, et al. Nocturnal blood pressure dip in CADASIL. J Neurol Sci 2001;193:13-16.
137. Rufa A, Dotti MT, Franchi M, et al. Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2005;36:2554-2558.
138. Peters N, Freilinger T, Opherk C, Pfefferkorn T, Dichgans M. Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL. J Neurol Sci 2007;260:100-105.
139. Flemming KD, Nguyen TT, Abu-Lebdeh HS, et al. Hyperhomocysteinemia in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Mayo Clin Proc 2001;76:1213-1218.
140. Kavirajan H, Schneider LS. Efficacy and adverse effects of cholinesterase inhibitors and memantine in vascular dementia: a meta-analysis of randomised controlled trials. Lancet Neurol 2007;6:782-792.
141. Mesulam M, Siddique T, Cohen B. Cholinergic denervation in a pure multi-infarct state: observations on CADASIL. Neurology 2003;60:1183-1185.
142. Keverne JS, Low WC, Ziabreva I, Court JA, Oakley AE, Kalaria RN. Cholinergic neuronal deficits in CADASIL. Stroke 2007;38:188-191.
143. Manganelli F, Ragno M, Cacchiò G, et al. Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration. Clin Neurophysiol 2008;119:351-355.
144. Dichgans M, Markus HS, Salloway S, et al. Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. Lancet Neurol 2008;7:310-318.
145. Royall DR, Mahurin RK, Gray KF. Bedside assessment of executive cognitive impairment: the executive interview. J Am Geriatr Soc 1992;40:1221-1226.
146. Schneider LS. Does donepezil improve executive function in patients with CADASIL? Lancet Neurol 2008;7:287-289.
147. Mohs RC, Knopman D, Petersen RC, et al. Development of cognitive instruments for use in clinical trials of antidementia drugs: additions to the Alzheimer's Disease Assessment Scale that broaden its scope. The Alzheimer's Disease Cooperative Study. Alzheimer Dis Assoc Disord 1997;11 (Suppl 2):S13-S21.