https://scholars.lib.ntu.edu.tw/handle/123456789/590573
標題: | Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke | 作者: | SUNG-CHUN TANG MING-JEN LEE JIANN-SHING JENG Yip P.-K. |
公開日期: | 2006 | 卷: | 243 | 期: | 44198 | 起(迄)頁: | 53-55 | 來源出版物: | Journal of the Neurological Sciences | 摘要: | Vascular lesions are infrequently recognized as manifestations of neurofibromatosis 1 (NF1), but they can produce serious complications and contribute to mortality at younger ages. Here we report the case of a young female patient with NF1 who suffered from a fatal middle cerebral artery (MCA) infarct. In addition to the MCA infarct, head MRI also disclosed old infarcts at bilateral cerebella and multiple intracranial arterial steno-occlusions. Stroke related to NF1 cerebral vasculopathy was highly suggested after other diseases were excluded. Additionally, genetic analysis of the patient identified a novel mutation at the splicing donor site, c. 2409 + 2T > G that resulted in a splicing aberration. ? 2005 Elsevier B.V. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33645079890&doi=10.1016%2fj.jns.2005.11.023&partnerID=40&md5=02111ac8a5547b84d1e44d4de90e2c53 https://scholars.lib.ntu.edu.tw/handle/123456789/590573 |
ISSN: | 0022510X | DOI: | 10.1016/j.jns.2005.11.023 | SDG/關鍵字: | adult; anamnesis; artery occlusion; article; case report; cerebellum; cerebral artery disease; cerebrovascular accident; cerebrovascular disease; clinical feature; donor site; echography; female; gene mutation; genetic analysis; human; laboratory test; neurofibromatosis; nuclear magnetic resonance imaging; priority journal; protein processing; Adult; Alternative Splicing; Arrhythmia; Brain; Brain Ischemia; Cerebral Arteries; Diagnosis, Differential; Disease Progression; DNA Mutational Analysis; Early Diagnosis; Fatal Outcome; Female; Humans; Hypotension; Infarction, Middle Cerebral Artery; Magnetic Resonance Imaging; Mutation; Neurofibromatosis 1; Neurofibromin 1; RNA Splice Sites |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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