title: Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension.
abstract: 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.
authors.affiliation: Department of Neurosurgery, The Maxine Dunitz Neurosurgical Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. schievinkw@cshs.org
authors.forename: Wouter I
authors.initials: WI
authors.lastname: Schievink
authors.forename: Ora K
authors.initials: OK
authors.lastname: Gordon
authors.forename: James C
authors.initials: JC
authors.lastname: Hyland
authors.forename: Leena
authors.initials: L
authors.lastname: Ala-Kokko
mesh_terms: D000293:Adolescent; D000328:Adult; D017545:Aortic Aneurysm, Thoracic / Q000150:complications; D001158:Arteries / Q000002:abnormalities; D001847:Bone Diseases / Q000150:complications; D005260:Female; D006801:Humans; D019585:Intracranial Hypotension / Q000134:cerebrospinal fluid / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013353:Subdural Effusion / Q000150:complications / Q000235:genetics*
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II