Skip to main content
Top
Published in: Journal of Neurology 1/2012

01-01-2012 | Letter to the Editors

A novel protein S gene mutation combined with protein S Tokushima mutation in a patient with superior sagittal sinus thrombosis

Authors: Akihiro Shindo, Makoto Ikejiri, Yuichiro Ii, Kaname Nakatani, Hideo Wada, Tsutomu Nobori, Hidekazu Tomimoto

Published in: Journal of Neurology | Issue 1/2012

Login to get access

Excerpt

Dear Sirs, …
Literature
1.
go back to reference Makris M, Leach M, Beauchamp NJ et al (2000) Gene analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood 95:1935–1944PubMed Makris M, Leach M, Beauchamp NJ et al (2000) Gene analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood 95:1935–1944PubMed
2.
go back to reference Kinoshita S, Iida H, Inoue S et al (2005) Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin Biochem 38:908–915PubMedCrossRef Kinoshita S, Iida H, Inoue S et al (2005) Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin Biochem 38:908–915PubMedCrossRef
3.
go back to reference Hayashi T, Nishioka J, Shigekiyo T et al (1994) Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood 83:683–690PubMed Hayashi T, Nishioka J, Shigekiyo T et al (1994) Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood 83:683–690PubMed
4.
go back to reference Masuhr F, Mehraein S, Einhäupl K (2004) Cerebral venous and sinus thrombosis. J Neurol 251:11–23PubMedCrossRef Masuhr F, Mehraein S, Einhäupl K (2004) Cerebral venous and sinus thrombosis. J Neurol 251:11–23PubMedCrossRef
5.
go back to reference Bakshi R, Lindsay BD, Bates VE et al (1998) Cerebral venous infarctions presenting as enhancing space-occupying lesions: MRI findings. J Neuroimaging 8:210–215PubMed Bakshi R, Lindsay BD, Bates VE et al (1998) Cerebral venous infarctions presenting as enhancing space-occupying lesions: MRI findings. J Neuroimaging 8:210–215PubMed
6.
go back to reference Filippidis A, Kapsalaki E, Patramani G et al (2009) Cerebral venous sinus thrombosis: review of the demographics, pathophysiology, current diagnosis, and treatment. Neurosurg Focus 27:1–11CrossRef Filippidis A, Kapsalaki E, Patramani G et al (2009) Cerebral venous sinus thrombosis: review of the demographics, pathophysiology, current diagnosis, and treatment. Neurosurg Focus 27:1–11CrossRef
8.
go back to reference Koeleman BP, Reitsma PH, Bertina RM (1997) Familial thrombophilia; a complex genetic disorder. Semin Hematol 34:256–264PubMed Koeleman BP, Reitsma PH, Bertina RM (1997) Familial thrombophilia; a complex genetic disorder. Semin Hematol 34:256–264PubMed
9.
go back to reference Yamazaki T, Sugiura I, Matsushita T et al (1993) A phenotypically neutral dimorphism of protein S; the substitution of Lys 155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res 70:395–403PubMedCrossRef Yamazaki T, Sugiura I, Matsushita T et al (1993) A phenotypically neutral dimorphism of protein S; the substitution of Lys 155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res 70:395–403PubMedCrossRef
10.
go back to reference Shigekiyo T, Uno Y, Kawaguchi S et al (1993) Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis. Thromb Haemost 70:244–246PubMed Shigekiyo T, Uno Y, Kawaguchi S et al (1993) Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis. Thromb Haemost 70:244–246PubMed
Metadata
Title
A novel protein S gene mutation combined with protein S Tokushima mutation in a patient with superior sagittal sinus thrombosis
Authors
Akihiro Shindo
Makoto Ikejiri
Yuichiro Ii
Kaname Nakatani
Hideo Wada
Tsutomu Nobori
Hidekazu Tomimoto
Publication date
01-01-2012
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 1/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-011-6122-x

Other articles of this Issue 1/2012

Journal of Neurology 1/2012 Go to the issue