title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis.
abstract: This study was performed on a family of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) subjects. Neuropathological alterations of small arteries consisting in thickening, reduplication and fragmentation of the internal elastic lamella, and granular periodic acid-Schiff-positive material deposited in the arterial media were demonstrated in 1 autopsy case by histochemistry and electron microscopy. This material reacted with a monoclonal antibody anti-elastin (aE), as demonstrated by immunohistochemistry and immunoelectron microscopy. Significant increases of aE-immunoreactivity and elastin mRNA expression were found in cultured skin fibroblasts from 5 family members genetically affected by CADASIL, but not genetically and clinically healthy members. These results suggest that alterations of the elastic apparatus are associated with CADASIL genotype and related to the clinical expression of the disease.
authors.affiliation: Dipartimento di Scienze Neurologiche, Università La Sapienza, Roma, Rome, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Caronti
authors.forename: L
authors.initials: L
authors.lastname: Calandriello
authors.forename: A
authors.initials: A
authors.lastname: Francia
authors.forename: L
authors.initials: L
authors.lastname: Scorretti
authors.forename: M
authors.initials: M
authors.lastname: Manfredi
authors.forename: T
authors.initials: T
authors.lastname: Sansolini
authors.forename: E M
authors.initials: EM
authors.lastname: Pennisi
authors.forename: C
authors.initials: C
authors.lastname: Calderaro
authors.forename: G
authors.initials: G
authors.lastname: Palladini
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001707:Biopsy, Needle; D001921:Brain / Q000473:pathology*; D002478:Cells, Cultured / Q000378:metabolism; D002539:Cerebral Arterial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002536:Cerebral Arteries / Q000648:ultrastructure; D002544:Cerebral Infarction / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D003094:Collagen / Q000648:ultrastructure; D004549:Elastin / Q000032:analysis* / Q000096:biosynthesis / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005353:Fibronectins / Q000032:analysis; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D002546:Ischemic Attack, Transient / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D012333:RNA, Messenger / Q000032:analysis; D012016:Reference Values; D012867:Skin / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome
chemical_list: D005353:Fibronectins; D012333:RNA, Messenger; D003094:Collagen; D004549:Elastin