Title |
NOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries
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Published in |
Frontiers in Neurology, June 2017
|
DOI | 10.3389/fneur.2017.00245 |
Pubmed ID | |
Authors |
Carlos Guevara, Gonzalo Farias, Kateryna Bulatova, Pablo Alarcón, Wendy Soruco, Carlos Robles, Marcelo Morales |
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. 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. |
X Demographics
Geographical breakdown
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Switzerland | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
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Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 2 | 11% |
Student > Bachelor | 2 | 11% |
Lecturer | 1 | 6% |
Student > Master | 1 | 6% |
Researcher | 1 | 6% |
Other | 0 | 0% |
Unknown | 11 | 61% |
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Agricultural and Biological Sciences | 1 | 6% |
Other | 0 | 0% |
Unknown | 10 | 56% |