Regular ArticleExpression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle
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Ischemic stroke with extensive vasculopathy in a patient with neurofibromatosis type 1
2022, Radiology Case ReportsCitation Excerpt :This case demonstrates widespread vasculopathy associated with NF1 in the form of vertebrobasilar dolichoectasia, right internal carotid pseudoaneurysm formation and acute left internal carotid dissection with tandem occlusion. The likely pathogenesis of NF1-associated vasculopathy is deficiency of neurofibromin, the protein product of the NF1 gene which is important in maintaining integrity of the endothelial cell layer [9]. No specific guidelines for treatment of dolichoectasia exist at present and intervention is limited to symptomatic cases [10,11].
Diagnosis of neurofibromatosis type 1 after rupture of aneurysm and consequent fatal hemothorax
2020, American Journal of Emergency MedicineCitation Excerpt :Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with an incidence of approximately 1 in 2600 to 3000 individuals. Approximately half of the cases are inherited [1–17]. NF1 is diagnosed based on the presentation of main clinical features of NF1, for example, multiple café-au-lait macules and neurofibromas.
Surgical Treatment for Patients with Moyamoya Syndrome and Type 1 Neurofibromatosis
2017, World NeurosurgeryA multidisciplinary approach in neurofibromatosis 1-Authors' reply
2015, The Lancet NeurologyDelayed cerebral vasculopathy following cranial radiation therapy for pediatric tumors
2014, Pediatric NeurologyCitation Excerpt :A study by Desai et al.52 inferred that NF-1 patients with RT-induced moyamoya have a lower radiation dose threshold (average: 46.5 Gy vs 58.1 Gy), but we found no difference in radiation dose for patients with NF-1 and patients without NF-1 who developed cerebrovasculopathy. Previous studies have demonstrated the association between NF-1 and moyamoya both in patients who have and have not undergone RT.15,52 The tendency of NF-1 patients to develop moyamoya without RT may occur because of neurofibromin that is encoded by the NF-1 gene, which is expressed in vascular endothelial and smooth muscle cells.53 Our literature search identified only 12 cases of moyamoya resulting from cranial irradiation for tumors in NF-1 patients, and so, obtaining firm conclusions regarding a lower radiation dose threshold is difficult.
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Correspondence: David H. Gutmann, Washington University School of Medicine, Box 8111, 660 S. Euclid Avenue, St. Louis, MO 63110, USA.