AUTHOR=Guevara Carlos , Farias Gonzalo , Bulatova Kateryna , Alarcón Pablo , Soruco Wendy , Robles Carlos , Morales Marcelo 

TITLE=NOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries

JOURNAL=Frontiers in Neurology

VOLUME=Volume 8 - 2017

YEAR=2017

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2017.00245

DOI=10.3389/fneur.2017.00245

ISSN=1664-2295

ABSTRACT=Dissections of extracranial arteries are estimated to account for only 2% of all ischemic strokes but for approximately 20% of strokes in patients younger than 45 years old.1 Most dissections of extracranial arteries involve some trauma stretch, mechanical stress or connective tissue abnormalities.1, 2 3 In the absence of these disorders, determining the etiology of recurrent extracranial dissections is quite challenging because the underlying nature of these cases is poorly understood.  We report the case of a 44-year-old female with recurrent dissections of the vertebral and carotid arteries associated with a heterozygous mutation p.Pro2122Leu in the NOTCH 1 gene. Her mother with a thoracic aortic aneurysm was also positive for this variant.