| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | |
| | |
MedLine Citation:
|
PMID: 16833034 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migrane, recurrent stroke, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in -33% of patients. CADASIL is commonly overlooked or misdiagnosed owing to its recent identification. The pathological hallmark of angiopathy is the presence of multiple, small, deep cerebral infarcts, leucoencephalopathy, and nonatherorosclerotic, nonamyloid angiopathy involving mainly small, deep perforating cerebral arteries. Changes also are present in vascular smooth muscle cells and consist in the presence of granular osmiophilic material (GOM). The defective gene in CADASIL is Notch 3, which encodes a large transmembrane receptor. Magnetic resonance imaging shows high intensity signal lesions, often confluent, and areas of cystic degeneration of subcortical white matter and basal ganglia. Diagnostic strategies in CADASIL are matter of discussions because the electron microscopic demonstration of GOM was reported in 100% of symptomatic patients of French authors, but only in 45% of a British study. GOMs are not present in presymptomatic patients. |
| | |
Authors:
|
D Guidetti; B Casali; R L Mazzei; M T Dotti |
Related Documents
:
|
6749504 - Comparative study of the sensitivity of ct and quantitative angioscintigraphy in cerebr... 1318814 - Primary cerebral anaplastic t-cell-lymphoma (type ki-1): review and case report. 8534154 - The role of ct-imaging in recognizing the type of hydrocephalus and porencephaly in chi... 3471364 - A simplified method of xenon-enhanced ct for regional cerebral blood flow (rcbf) measur... 15711984 - Mri and proton mr spectroscopy in acute disseminated encephalomyelitis. 16952724 - Bucket-handle meniscal lesions: magnetic resonance imaging criteria for reparability. |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Clinical and experimental hypertension (New York, N.Y. : 1993) Volume: 28 ISSN: 1064-1963 ISO Abbreviation: Clin. Exp. Hypertens. Publication Date: 2006 Apr-May |
Date Detail:
|
Created Date: 2006-07-12 Completed Date: 2006-07-27 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9305929 Medline TA: Clin Exp Hypertens Country: United States |
Other Details:
|
Languages: eng Pagination: 271-7 Citation Subset: IM |
Affiliation:
|
Divisione di Neurologia, Azienda Ospedaliera Santa Maria Nuova, Reggio Emilia, Italy. sno.dona@iol.it |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
CADASIL
/
complications*,
epidemiology,
genetics Cerebral Infarction / complications*, diagnosis DNA / genetics Dementia, Multi-Infarct / complications*, diagnosis Diagnosis, Differential Humans Magnetic Resonance Imaging Mutation Prevalence Prognosis Receptors, Notch / genetics |
| Chemical | |
Reg. No./Substance:
|
0/NOTCH3 protein, human; 0/Receptors, Notch; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Early poststroke seizures.
Next Document: Risk factors and stroke subtypes: results of five consecutive years of the Perugia Stroke Registry.