| J Neurol Neurosurg Psychiatry. 1995 August; 59(2): 138–143. | PMCID: PMC485988 |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. H H Jung, C Bassetti, E Tournier-Lasserve, K Vahedi, M Arnaboldi, V B Arifi, and J M Burgunder Department of Neurology, University Hospital Bern, Switzerland. Abstract This paper reports a Swiss family affected by a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) linked to chromosome 19q12. In three generations several members of this family had recurrent stroke-like episodes and, some developed subcortical dementia, migraine-like headaches, and depression. The clinically affected family members had multiple subcortical infarcts and diffuse leukoencephalopathy on MRI. Necropsy of one patient showed a distinctive non-amyloid and non-atherosclerotic angiopathy of small cerebral and leptomeningeal arteries with concentric depositions of a basophilic granular material replacing the smooth muscle cells of the media. Linkage analysis with five chromosome 19 markers spanning the estimated CADASIL interval showed the absence of any recombinant and positive Lod scores, highly suggestive of linkage of this condition to the CADASIL locus. CADASIL might be an underestimated cause of familial stroke and should be considered in the differential diagnosis of hereditary stroke. Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.5M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References. Images in this article Click on the image to see a larger version. These references are in PubMed. This may not be the complete list of references from this article. - Natowicz, M; Kelley, RI. Mendelian etiologies of stroke. Ann Neurol. 1987 Aug;22(2):175–192. [PubMed]
- Pavlakis, SG; Phillips, PC; DiMauro, S; De Vivo, DC; Rowland, LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984 Oct;16(4):481–488. [PubMed]
- Stevens, DL; Hewlett, RH; Brownell, B. Chronic familial vascular encephalopathy. Lancet. 1977 Jun 25;1(8026):1364–1365. [PubMed]
- Sourander, P; Wålinder, J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol. 1977 Aug 31;39(3):247–254. [PubMed]
- Sonninen, V; Savontaus, ML. Hereditary multi-infarct dementia. Eur Neurol. 1987;27(4):209–215. [PubMed]
- Davous, P; Fallet-Bianco, C. Démence sous-corticale familiale avec leucoencéphalopathie artériopathique. Observation clinico-pathologique. Rev Neurol (Paris). 1991;147(5):376–384. [PubMed]
- Mas, JL; Dilouya, A; de Recondo, J. A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy. Neurology. 1992 May;42(5):1015–1019. [PubMed]
- Salvi, F; Michelucci, R; Plasmati, R; Parmeggiani, L; Zonari, P; Mascalchi, M; Tassinari, CA. Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT scan. Ital J Neurol Sci. 1992 Mar;13(2):135–140. [PubMed]
- Baudrimont, M; Dubas, F; Joutel, A; Tournier-Lasserve, E; Bousser, MG. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke. 1993 Jan;24(1):122–125. [PubMed]
- Tournier-Lasserve, E; Joutel, A; Melki, J; Weissenbach, J; Lathrop, GM; Chabriat, H; Mas, JL; Cabanis, EA; Baudrimont, M; Maciazek, J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993 Mar;3(3):256–259. [PubMed]
- Hudson, TJ; Engelstein, M; Lee, MK; Ho, EC; Rubenfield, MJ; Adams, CP; Housman, DE; Dracopoli, NC. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics. 1992 Jul;13(3):622–629. [PubMed]
- Weissenbach, J; Gyapay, G; Dib, C; Vignal, A; Morissette, J; Millasseau, P; Vaysseix, G; Lathrop, M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. [PubMed]
- Berthier, E; Broussolle, E; Garcia-Jacquier, M; Tommasi, M; Chazot, G. Leucoencéphalopathie artériopathique juvénile: étude anatomoclinique d'un cas. Rev Neurol (Paris). 1992;148(2):146–149. [PubMed]
- Gutiérrez-Molina, M; Caminero Rodríguez, A; Martínez García, C; Arpa Gutiérrez, J; Morales Bastos, C; Amer, G. Small arterial granular degeneration in familial Binswanger's syndrome. Acta Neuropathol. 1994;87(1):98–105. [PubMed]
- Gray, F; Robert, F; Labrecque, R; Chrétien, F; Baudrimont, M; Fallet-Bianco, C; Mikol, J; Vinters, HV. Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease. Neuropathol Appl Neurobiol. 1994 Feb;20(1):22–30. [PubMed]
- 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 Nov;25(11):2291–2292. [PubMed]
- Joutel, A; Bousser, MG; Biousse, V; Labauge, P; Chabriat, H; Nibbio, A; Maciazek, J; Meyer, B; Bach, MA; Weissenbach, J, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet. 1993 Sep;5(1):40–45. [PubMed]
- Joutel, A; Bousser, MG; Biousse, V; Labauge, P; Chabriat, H; Nibbio, A; Maciazek, J; Meyer, B; Bach, MA; Weissenbach, J, et al. Migraine hémiplégique familiale. Localisation d'un gène responsable sur le chromosome 19. Rev Neurol (Paris). 1994;150(5):340–345. [PubMed]
- Chui, HC; Victoroff, JI; Margolin, D; Jagust, W; Shankle, R; Katzman, R. Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer's Disease Diagnostic and Treatment Centers. Neurology. 1992 Mar;42(3 Pt 1):473–480. [PubMed]
|
This article has been 
