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

We report on two Italian families with an early-adult onset autosomal dominant disorder, characterized by leukoencephalopathy, migraine, psychiatric disturbances, stroke and dementia. These findings fulfill the diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarct...

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Bibliographic Details
Published in:Acta neuropathologica 1996-08, Vol.92 (2), p.115-122
Main Authors: MALANDRINI, A, CARRERA, P, CALI, A, MOROCUTTI, C, ZEVIANI, M, FERRARI, M, GUAZI, G. C, PALMERI, S, CAVALLARO, T, FABRIZI, G. M, VILLANOVA, M, FATTAPPOSTA, M, VISMARA, L, BRANCOLINI, V, TANGENELLI, P
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Cerebral Arterial Diseases - genetics
Cerebral Arterial Diseases - immunology
Cerebral Arterial Diseases - pathology
Cerebral Arteries - immunology
Cerebral Arteries - pathology
Cerebral Arteries - ultrastructure
Cerebrovascular Disorders - genetics
Cerebrovascular Disorders - pathology
Dementia - genetics
Dementia - pathology
Female
Humans
Immunohistochemistry
Italy
Male
Medical sciences
Middle Aged
Neurology
Pedigree
Vascular diseases and vascular malformations of the nervous system
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Summary:We report on two Italian families with an early-adult onset autosomal dominant disorder, characterized by leukoencephalopathy, migraine, psychiatric disturbances, stroke and dementia. These findings fulfill the diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome. Moreover, to confirm the CADASIL gene location to 19p12, we performed a linkage analysis with four microsatellite markers. The results of the genetic study gave positive but not significant lod scores, indicating only weak evidence of a linkage with 19p12. In one autopsy case, we found extensive ischemic changes due to the selective involvement of the small muscular arteries of the cerebral white matter. The lesions consisted of a thickening of the media with deposition of granular eosinophilic material. Ultrastructural examination of the arterial walls showed graded damage to smooth muscle cells, mostly of the longitudinal layer, and an abnormal proliferation of basal lamina components. Immunocytochemical analysis showed strong reactivity using antibodies to collagen IV and smooth myosin proteins. The results suggest a primary involvement of the smooth muscle cells of small cerebral arteries, with a secondary alteration of basal lamina components and elastic tissue.
ISSN:0001-6322
1432-0533
DOI:10.1007/s004010050498