PMID: 18720749Aug 30, 2008Paper

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)--three case reports from Serbia

Srpski arhiv za celokupno lekarstvo
Jasna Zidverc-TrajkovićNadezda Sternić

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy leading to recurrent strokes and vascular dementia in young and middle-aged patients. The diagnosis of CADASIL is based on typical clinical presentation and characteristic magnetic resonance imaging (MRI) changes, and has to be confirmed by biopsy of the sural nerve, muscle and skin, as well as by genetic analysis. Mutations within the Notch3 gene were identified as the underlying genetic defect in CADASIL. The clinical manifestations of the first presented patient with migraine from the age of thirteen, stroke without vascular risk factors and stepwise progression of vascular dementia comprising the typical clinical picture of CADASIL, were confirmed after seven years with pathological verification. The second presented case did not satisfy the clinical criteria for CADASIL. His stroke was considered to be related with vascular risk factors--diabetes mellitus and hypertension. The aetiological diagnosis was established only when his brother without vascular risk factors presented with similar clinical manifestations. Until the development of the new neuroimaging techniques like MRI, pathologic an...Continue Reading

References

May 1, 1997·Journal des maladies vasculaires·P Langeron
Apr 21, 1998·Cerebrovascular Diseases·H TailliaM G Bousser
Nov 18, 1998·Annals of Neurology·M DichgansT Gasser
Jul 5, 2005·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·A FedericoM T Dotti
May 30, 2006·Journal of the Neurological Sciences·Z O UygunerB Wollnik
Sep 26, 2006·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·M RagnoL Trojano

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Citations

Nov 25, 2011·International Journal of Stroke : Official Journal of the International Stroke Society·Chris MoranVelandai K Srikanth
Oct 18, 2014·Brain Pathology·Saara TikkaHannu Kalimo

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