Schievink Wouter I, Gordon Ora K, Hyland James C, Ala-Kokko Leena
Department of Neurosurgery, The Maxine Dunitz Neurosurgical Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
J Headache Pain. 2008 Apr;9(2):99-102. doi: 10.1007/s10194-008-0017-y. Epub 2008 Feb 9.
A heritable connective-tissue-disorder often is suspected in patients with spontaneous spinal CSF leaks and intracranial hypotension, but the nature of the disorder remains unknown in most patients. The aim of this study was to assess the gene encoding TGF-beta receptor-2 (TGFBR2) as a candidate gene for spinal CSF leaks. We searched the TGFBR2 gene for mutations in eight patients with spontaneous spinal CSF leaks who also had other features associated with TGFBR2 mutations, i.e., skeletal features of Marfan syndrome, arterial tortuosity, and(or) thoracic aortic aneurysm. The mean age of these 7 women and 1 man was 38 years (range 14-60 years). We detected no TGFBR2 mutations and conclude that TGFBR2 mutations are not a major factor in spontaneous spinal CSF leaks.
对于患有自发性脊髓脑脊液漏和颅内低压的患者，常常怀疑其患有遗传性结缔组织疾病，但在大多数患者中，该疾病的性质仍不清楚。本研究的目的是评估编码转化生长因子β受体2（TGFBR2）的基因作为脊髓脑脊液漏的候选基因。我们在8例患有自发性脊髓脑脊液漏且具有其他与TGFBR2突变相关特征（即马凡综合征的骨骼特征、动脉迂曲和（或）胸主动脉瘤）的患者中，对TGFBR2基因进行了突变检测。这7名女性和1名男性的平均年龄为38岁（范围14 - 60岁）。我们未检测到TGFBR2突变，并得出结论，TGFBR2突变不是自发性脊髓脑脊液漏的主要因素。
