NotCH 1 Mutation in a patient with spontaneous and Recurrent Dissections of extracranial arteries

作者：Guevara Carlos; Farias Gonzalo; Bulatova Kateryna; Alarcon Pablo; Soruco Wendy; Robles Carlos; Morales Marcelo

来源：Frontiers in Neurology, 2017, 8: 245.

DOI：10.3389/fneur.2017.00245

• NOTCH1
• stroke
• dissection of extracranial arteries
• recurrent dissection of extracranial arteries
• Pro2122Leu

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. Most dissections of extracranial arteries involve some trauma stretch, mechanical stress, or connective tissue abnormalities. 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.

• 出版日期2017-6-9