Potential New Cysteine Sparing Mutation in the NOTCH3 Gene in a Patient with Nonfamilial CADASIL-like Disease

Abstract

Background—Several different mutations have been reported in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We present a unique case
with transversion not involving cysteine on neurogenic locus notch homolog protein 3 gene.
Case description—We present a case of 65-year-old woman with new ischemic stroke resulting in right
hemiparesis. She has previously suffered minor strokes at age 56, 58, and 60 years and migraine headaches
between age 10 and 50 years. Magnetic resonance imaging demonstrated multifocal chronic ischemic
infarctions with encephalomalacia in the left posterior parietal, parieto-occipital regions and the pons. An
analysis of the protein sequence of notch 3 gene did not demonstrate any alterations characteristics of
CADASIL disease. There was a deoxyribonucleic acid variant with transversion of alanine with tyrosine
and change of histidine with leucine on notch 3 gene. None of the family members had any clinical manifestations suggestive of CADASIL.
Conclusion—We report the first report of deoxyribonucleic acid variation in notch 3 gene associated with
clinical features of CADASIL without any familial component.