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Spontaneous cerebellar hemorrhage associated with a novel Notch3 mutation

Authors
Journal
Journal of Clinical Neuroscience
0967-5868
Publisher
Elsevier
Volume
20
Issue
7
Identifiers
DOI: 10.1016/j.jocn.2012.11.003
Keywords
  • Cadasil
  • Microangiopathy Stroke
  • Stroke In Young
Disciplines
  • History
  • Medicine

Abstract

Abstract A 55-year-old woman with no significant medical history presented with an acute onset severe headache. A non-enhanced CT scan of the head revealed a right cerebellar hemorrhage. Investigation for etiology of the hemorrhage included an MRI showing extensive subcortical ischemic disease and also several previous microbleeds. The MRI appearance and absence of any other etiology for hemorrhage prompted work up for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). She was found to have a guanosine to thymidine transversion at nucleotide position 1336, codon position 420, resulting in a glycine>cysteine substitution interpreted as “predicted CADASIL-associated mutation”. To our knowledge, this mutation has not yet been reported in association with CADASIL.

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