CADASIL: A review with proposed diagnostic criteria

European Journal of Neurology

Volumn 5, Issue 3, 1998, Pages 219-233

  Davous, P ^a  

^a CENTRE HOSPITALIER VICTOR DUPOUY   (France)

Author keywords

Cadasil; Dementia; Lacunes; Leukoencephalopathy; Migraine; Stroke

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; BASAL GANGLION; BRAIN INFARCTION; CEREBROVASCULAR DISEASE; CHROMOSOME 19; CLINICAL FEATURE; DEMENTIA; DISEASE COURSE; EPILEPTIC AURA; HUMAN; LEUKOENCEPHALOPATHY; MIGRAINE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; REVIEW; STROKE; WHITE MATTER;

EID: 0031833058     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-1331.1998.530219.x     Document Type: Review

References (78)

1. Adair JC, Graham GD, Hart BL, Kornfeld M, Ptacek LJ, Davis LE (1997). Hereditary neuropsychiatric syndrome secondary to familial vascular leukoencephalopathy (FVL). Neurology 48:A99.
2. Babikian V, Ropper AH (1987). Binswanger's disease: a review. Stroke, 18:2-12.
3. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG (1993). Autosomal dominant leukoencephalopathy and subcortical ischemic stroke: a clinicopathological study. Stroke 24:122-125
4. Bergmann M, Ebke M, Yuan Y, Bruck W, Mugler M, Schwendemann G (1996). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family. Acta Neuropathol 92:341-350.
5. Berthier E, Broussolle E, Garcia-Jacquier M, Tommasi M, Chazot G (1992). Leucoencéphalopathie artériopathique juvénile: étude anatomo-clinique d'un cas. Revue Neurol (Paris) 148:146-149.
6. van Bogaert L (1955). Encéphalopathie sous corticale progressive (Binswanger) à évolution rapide chez deux soeurs. Médecine Helénique 24:961-972.
7. Bonthius DJ, Mathews KD, Adams HP (1996). CADASIL in a North American family: linkage to chromosome 19. Neurology 46:A211.
8. Bousser MG, Tournier-Lasserve E, Aylward R, et al. (1988). Recurrent strokes in a family with diffuse white matter abnormalities. A new mitochondrial citopathy. J Neurol 235:S1, S4-S5.
9. Bousser MG, Tournier-Lasserve E (1994). Summary of the proceedings of the first international workshop on CADASIL. Stroke 25:704-707.
10. Bowler JV, Hachinksi V (1994). Progress in the genetics of cerebrovascular disease: Inherited subcortical arteriopathies. Stroke 25:1696-1698.
11. Brunholzl C, Becker FW, Schumm F (1997). Peripheral nerve involvement in CADASIL syndrome. J Neurol 244:S3, S67-68.
12. Caplan LR (1995). Binswanger's disease-revisited. Neurology 45:626-633.
13. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy T, Krebs MO et al. (1995a). The clinical spectrum of CADASIL. Lancet 346:934-939.
14. Chabriat H, Tournier-Lasserve E, Vahedi K et al. (1995b). Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology 45:1086-1091.
15. Chabriat H, Bousser MG, Pappata S (1996a). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a positron emission tomography study in two affected family members. Stroke 27:1729-1730.
16. Chabriat H, Tailla H, Iba-Zizen MT, et al. (1996b). MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 46:A212.
17. Chabriat H, Joutel A, Vahedi K, Iba-Zizen MT, Tournier-Lasserve E, Bousser MG (1997). CADASIL. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Rev Neurol 153:376-385.
18. Colmant HJ (1980). Familiäre zerebrale Gefäberkrankung. Zbl Allg Pathol 124:163.
19. Davous P, Fallet-Bianco C (1991). Démence sous corticale familiale avec leucoencéphalopathie artériopathique: observation clinico-pathologique. Rev Neurol (Paris) 147: 376-384.
20. Davous P, Bequet D (1995). CADASIL: un nouveau modèle de démence sous-corticale. Revue Neurol (Paris) 151: 634-639.
21. Dichgans M, Mayer M, Muller-Myhsok B, Straube A, Gasser T (1996). Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. Genomics 32:151-154.
22. Dichgans M, Peteresen D (1997). Angiographic complications in CADASIL. Lancet 349:776-777.
23. Dubas F, Gray F, Roullet E, Escourolle R (1985). Leucoencephalopathies artériopathiques. 17 cas anatomo-cliniques. Revue Neurol (Paris) 141:93-108.
24. Ducros A, Nagy T, Alamowitch S, et al. (1996). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. Am J Hum Genet 58:171-181.
25. Estes ML, Chimowitz MI, Awad IA, McMahon JT, Furlan AJ, Ratliff NB (1991). Sclerosing vasculopathy of the central nervous system in nonelderly demented patients. Arch Neurol 48:631-636.
26. Fisher CM (1989). Binswanger's encephalopathy: a review. J Neurol 236:65-79.
27. Fukutake T, Hirayama K (1992). Familial juvenile arteriosclerotic leukoencephalopathy with diffuse baldness and skeletal system disorders. Shinkei Kenkyu no Shinpo 36:70-80.
28. Fukutake T, Hirayama K (1995). Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur Neurol 35: 69-79.
29. Furuta A, Ishii N, Nishihara Y, Horie A (1991). Medullary arteries in aging and dementia. Stroke 22:442 446.
30. Gray F, Robert F, Labrecque R, Chretien F, Baudrimont M, Fallet-Bianco C, Mikol J (1994). Autosomal dominant arteriopathic leukoencephalopathy and Alzheimer's disease. Neuropathol Appl Neurobiol 20:22-30.
31. Gutierrez-Molina M, Caminero Rodriguez A, Martinez Garcia C, Arpa Gutierrez J, Morales Bastos C, Amer G (1994). Small arterial granular degeneration in familial Binswanger's syndrome. Acta Neuropathol 87:98-105.
32. Hutchinson M, O'Riordan J, Javed M, et al. (1995). Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol 38:817-824.
33. Jen JC, Cohen A, Yue Q, Baloh RW (1997). Hereditary systemic vasculopathy with stroke, retinopathy, and nephropathy. Neurology 48:A328-329.
34. Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, et al. (1993). A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 5:40-45.
35. Joutel A, Ducros A, Vahedi K, Labauge P, Delrieu O, Pinsard N, Mancini J, et al. (1994). Genetic heterogeneity of familial hemiplegic migraine. Am J Hum Genet 55: 1166-1172.
36. Joutel A, Corpechot Ch, Ducros A, et al. (1996). Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707-710.
37. Jung HH, Bassetti C, Tournier-Lasserve E, Vahedi K, Arnaboldi M, Blatter-Arifi V, Burgunder JM (1995). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinico-pathological and genetic study of a Swiss family. J Neurol Neurosurg Psychiatr 59:138-143.
38. Kondo S, Ogazawara S, Ito T, Tsunoda T (1970). Über einen autptischen Fall von der im ZNS lokalisierten nekrotisierenden Angitis (periarteritis nodosa ?) Adv Neurol Sci (Tokyo) 14:274-284.
39. Lammie GA, Rakshi J, Rossor MN, Harding AE, Scaravilli F (1995). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-confirmation by cerebral biopsy in 2 cases. Clin Neuropathol 14:201-206.
40. Lechner-Scott J, Engelter S, Steck A, Dellas S, Tolnay M, Probst A (1996). A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-confirmed by sural nerve biopsy. J Neurol Neurosurg Psychiatry 60:235-236.
41. Loizou LA, Jefferson JM, Thomas Smith W (1982). Subcortical arteriosclerotic encephalopathy (Binswanger's type) and cortical infarcts in a young normotensive patient. J Neurol Neurosurg Psychiatry 45:409-417.
42. Maeda S, Nemoto S, Suwa N, Yamagata J, Nagashima Y (1965). Multiple softening in the cerebral white matter caused by cerebral angiitis (Binswanger's disease) Saishin Igaku 20:933-940.
43. Maeda S, Nakayama H, Isaka K, Aihara Y, Nemoto S (1976). Familial unusual encephalopathy of Binswanger's type without hypertension. Fol Psychiat Neurol Jpn 30: 165-177.
44. Malandrini A, Carrera P, Palmeri S, et al. (1996). Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. Acta Neuropathol 92:115-122.
45. Mas JL, Dilouya A, De Recondo J (1992). A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy. Neurology 42:1015-1019.
46. Mayer M, Dichgans M, Gasser T, Buttner U, Uttner I, Straube A (1995). Erbliche zerebrale Arteriopathie CADASIL. Beschreibung einer Familie. Nervenarzt 66: 927-932.
47. Mellies JK, Tournier-Lasserve E, Baumer T et al. (1997). A Clinical, MRI, SPECT and pathological study of a large German CADASIL family. Neurology 48:A140.
48. Mutrux S (1951). Etude d'un cas familial de paralysie pseudo-bulbaire à forme ponto-cérébelleuse. Monat Psychiat Neurol 122:349-385.
49. Olsson Y (1994). In memory of Patrick Sourander. Brain Pathol 4:101-103.
50. Ophoff RA, Van Eijk R, Sandkuijl LA, Terwindt GM, Grubben CPM, Haan J, Lindhout D, et al. (1994). Genetic heterogeneity of familial hemiplegic migraine. Genomics 22:71-26.
51. Ophoff RA, Terwindt GM, Vergouwe MN, et al. (1996). Familial hemiplegic migraine and episodic ataxia type 2 caused by mutations in the Ca 2+ channel gene CACN-L1A4. Cell 87:543-552.
52. Otto V, Kaps M, Burgmann T, Kompf D (1997). CADASIL: zwei Falldarstellungen einer hereditären Multiinfarctdemenz. Fortschr Neurol Psychiatr 65:90-95.
53. Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, Sirocchi G, et al. (1995). An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarts and leukoencephalopathy (CADASIL). Ann Neurol 38:231-236.
54. Roman GC (1987). Senile dementia of the Binswanger type: a vascular form of dementia in the elderly. JAMA 258:1782 1788.
55. Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E (1994). Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke 25:2291-2292.
56. Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D (1995). Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarts and leukoencephalopathy. Acta Neuropathol 89:500-512.
57. St Clair D, Bolt J, Morris S, Doyle D (1995). Hereditary multiinfarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of a probable locus heterogeneity. J Med Genet 32: 57-60.
58. Sabbadini G, Francia A, Calandriello L, di Biasi C, Trasimeni G, Gualdi GF, Palladini G, et al. (1995). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 118:207-215.
59. Salvi F, Micchelucchi R, Plasmati R, Parmeggiani L, Zonari P, Mascalchi M, Tassinari CA (1992). Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT Scan. Ital J Neurol Sci 13:135-140.
60. Schroder JM, Selhaus B, Jorg J (1995). 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 89:116-121.
61. Sonninen V, Savontaus ML (1987). Hereditary multi infarct dementia. Eur Neurol 27:209-215.
62. Sourander P, Walinder J (1977a). Hereditary multi infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol (Berlin) 39:247-254.
63. Sourander P, Walinder J (1977b). Hereditary multi infarct dementia. Lancet 1:1015.
64. Sourander and Walinder (1977)
65. Stevens DL, Hewlett RH, Brownell B (1977). Chronic familial vascular encephalopathy. Lancet 2:1364-1365.
66. van Swieten JC, Caplan LR (1993). Binswanger's disease. In: Advances in Neurology. Pullicino PM, Caplan LR, Hommel M (editors). New York: Raven Press. pp. 193-211.
67. Taillia H, Chabriat H, Kurtz A, et al. (1996). Neuropsychological alterations in CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): a study of 10 patients. Cerebrovascular Dis 6:S2, 122.
68. Tanaka M, Ikuta F, Oyake Y (1969). An autopsy case of chronic progressive subcortical encephalopathy without hypertension. Clin Neurol (Tokyo) 9: 348-355.
69. Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG (1991). Autosomal dominant syndrome with stroke-like episodes and leukoencephalopathy. Stroke 22: 1297-1302.
70. Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, Mas JL, et al. (1993). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps on chromosome 19q12. Nat Genet 3:256-259.
71. Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazek J, Bach JF, Bousser MG, Tournier-Lasserve E (1995). A gene for cerebellar paroxysmal ataxia maps to chromosome 19p. Ann Neurol 37: 289-293.
72. Vahedi K, Chabriat H, Ducros A, et al. (1996). Analysis of CADASIL clinical natural history in a series of 136 patients belonging to 17 families linked to chromosome 19. Neurology 46:A211.
73. Verin M, Rolland Y, Landgraf F, et al. (1994). New phenotype of CADASIL in Brittany with migraine and bipolar psychotic disorders as prominent clinical features. Neurology 44:S2, A288.
74. Verin M, Rolland Y, Landgraf F, et al. (1995). New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry 59:579-585.
75. Wielaard R, Bornebroek M, Ophoff RA. et al. (1995). A fourgeneration Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19 p13. Clin Neurol Neurosurg 97:307-313.
76. Yamamura T, Nishimura, Shirabe T, Fujita M (1987). Subcortical vascular encephalopathy in a normotensive. young adult with premature baldness and spondylitis deformans: a clinopathological study and review of the literature. J Neurol Sci 78:175-188.
77. Zhang WW, Badonic T, Hoog A, et al. (1994a). Structural and vasoactive factors influencing intracerebral arterioles in cases of vascular dementia and other cerebrovuscular disease: a review. Dementia 5:153-162.
78. Zhang WW, Ma KC, Andersen O, Sourander P, Tollesson PO, Olsson Y (1994b). The microvascular changes in cases of hereditary multi-infarct disease of the brain. Acta Neuropathol 87:317-324.