Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Greek family.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited disease, characterised by recurrent strokes, migraine and cognitive impairment. We present the first Greek family with CADASIL, caused by the R153C mutation at exon 4 of the Notch3 gene. A member of this family carrying this mutation was also found to be heterozygotic for the MTHFR mutation, factor V Leiden mutation and had low serum levels of antithrombin III, thus resulting in the appearance of recurrent strokes and thrombotic episodes since his early adulthood. The co-existence of these thrombophilic disorders with CADASIL in a single person poses serious therapeutic dilemmas, as the administration of anticoagulant agents may correlate with increased risk of potentially fatal intracerebral haemorrhage.
Mandellos
D
D
Department of Physiology, School of Nursing, University of Athens, 8 Tetrapoleos Str, Goudi Athens 11527, Greece.
Limbitaki
G
G
Papadimitriou
A
A
Anastasopoulos
D
D
D000328:Adult; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D002544:Cerebral Infarction / Q000235:genetics; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D010375:Pedigree; D020521:Stroke