Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
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.
Guidetti
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Divisione di Neurologia, Azienda Ospedaliera Santa Maria Nuova, Reggio Emilia, Italy. sno.dona@iol.it
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Mazzei
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Dotti
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D046589:CADASIL / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D002544:Cerebral Infarction / Q000150:complications* / Q000175:diagnosis; D004247:DNA / Q000235:genetics; D015161:Dementia, Multi-Infarct / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D015995:Prevalence; D011379:Prognosis; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D004247:DNA