Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension.

Authors

Wouter I Schievink
Ora K Gordon
James C Hyland
Leena Ala-Kokko

Publication/Presentation Date

4-1-2008

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.

Volume

9

Issue

2

First Page

99

Last Page

102

ISSN

1129-2369

Published In/Presented At

Schievink, W. I., Gordon, O. K., Hyland, J. C., & Ala-Kokko, L. (2008). Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension. The journal of headache and pain, 9(2), 99–102. https://doi.org/10.1007/s10194-008-0017-y

Disciplines

Medicine and Health Sciences

PubMedID

18264665

Department(s)

Department of Pathology and Laboratory Medicine

Document Type

Article