Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy

Acta Neuropathologica

Volumn 92, Issue 2, 1996, Pages 115-122

  Malandrini, A ^a   Carrera, P ^b   Palmeri, S ^a   Cavallaro, T ^a   Fabrizi, G M ^a   Villanova, M ^a   Fattapposta, M ^c   Vismara, L ^b   Brancolini, V ^d   Tanganelli, P ^a   Cali A ^e   Morocutti, C ^c   Zeviani, M ^f   Ferrari, M ^b   Guazzi, G C ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

CADASIL; Cerebral arteriopathy; Leukoencephalopathy; Smooth muscle cell

Indexed keywords

COLLAGEN TYPE 4; MYOSIN;

ADULT; ANAMNESIS; ARTERY DISEASE; ARTERY MUSCLE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASEMENT MEMBRANE; BRAIN ARTERY; BRAIN CORTEX; BRAIN INFARCTION; CASE REPORT; CHROMOSOME 19P; CLINICAL FEATURE; DEMENTIA; ELASTIC TISSUE; FAMILY STUDY; FEMALE; GENE LOCATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ITALY; LEUKOENCEPHALOPATHY; MALE; MENTAL DISEASE; MIGRAINE; MUSCLE INJURY; NEUROPATHOLOGY; PEDIGREE; PRIORITY JOURNAL; STROKE; TUNICA MEDIA; ULTRASTRUCTURE; WHITE MATTER;

ADULT; AGED; CEREBRAL ARTERIAL DISEASES; CEREBRAL ARTERIES; CEREBROVASCULAR DISORDERS; DEMENTIA; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; ITALY; MALE; MIDDLE AGED; PEDIGREE;

EID: 8944257612     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050498     Document Type: Article

References (20)

1. 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
2. Bogaert L van (1955) Encéphalopathie sous corticale progressive (Binswanger) à évolution rapide chez deux soeurs. Méd Héllén 24: 961-972
3. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X, Levasseur M, Homeyer P, Mas JL, Lyon-Caen O, Tournier-Lasserve E, Bousser MG (1995) Clinical spectrum of CADASIL: a study of 7 families. Lancet 346: 934-939
4. Clair DS, Bolt J, Morris S, Doyle D (1995) Hereditary multiinfarct dementia unlinked to chromosome 19p12 in a large Scottish pedigree: evidence of probable locus heterogeneity. J Med Genet 32: 57-60
5. Davous P, Fallet-Bianco C (1991) Démence sous-corticale familiale avec leucoencéphalopathie artériopathique. Observation clinico-pathologique. Rev Neurol (Paris) 147: 376-384
6. Gray F, Robert F, Labrecque R, Chrétien F, Baudrimont M, Fallet-Bianco C, Mikol J, Vinters HV (1994) Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease. Neuropathol Appl Neurobiol 20: 22-30
7. Gyapay G, Morissette J, Vignal A, Dib C, et al (1994) The 1993-94 Généthon human linkage map. Nature Genet 7: 246-339
8. Lathrop GM, Laiouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81: 3443-3446
9. Maniatis TM, Fritdch EF, Sambrook J (eds) (1990) Molecular cloning. A laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor
10. Mas JL, Dilouya A, Recondo J de (1992) A familial disorder with subcortical ischemic strokes, dementia and leukoencephalopathy. Neurology 42: 1015-1019
11. Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, Sirocchi G, Trojano L, Chabriat H, Salvi F (1995) An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol 38: 231-236
12. Ruchoux M-M, Guerouaou D, Vandenhaute B, Pruvo J-P, Vermersch P, Leys D (1995) Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 89: 500-512
13. Sabbadini G, Francia A, Calandriello L, Di Biasi C, Trasimeni G, Gualdi GF, Palladini G, Manfredi M, Frontali M (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
14. Salvi F, Michelucci 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
15. Schröder JM, Sellhaus B, Jörg 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
16. Sonninen V, Savontaus ML (1987) Hereditary multi-infarct dementia. Eur Neurol 27: 209-215
17. Sourander P, Walinder J (1977) Hereditary multi-infarct dementia. Acta Neuropathol (Berl) 39: 247-254
18. Tournier-Lasserve E, Iba-Zizen M-T, Bousser MG (1991) Autosomal dominant syndrome with stroke-like episodes and leukoencephalopathy. Stroke 22: 1297-1302
19. Tournier-Lasserve E, Joutel A, Melki J, Weissembach J, Latthrop GM, Chabriat H, Mas JL, Cabanis E-A, Baudrimont M, Maciazek J, Bach M-A, Bousser M-G (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nature Genet 3: 256-259
20. Zhang WW, Ma KC, Andersen O, Sourander P, Tollesson PO, Olsson Y (1994) The microvascular changes in cases of hereditary multi-infarct disease of the brain. Acta Neuropathol 87: 317-324