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

Journal of Neurology

Volumn 259, Issue 1, 2012, Pages 178-179

  Shindo, Akihiro ^a   Ikejiri, Makoto ^b   Ii, Yuichiro ^a   Nakatani, Kaname ^b   Wada, Hideo ^a   Nobori, Tsutomu ^a   Tomimoto, Hidekazu ^a  

^a MIE UNIVERSITY   (Japan)

^b MIE UNIVERSITY HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN S; PROTEIN S TOKUSHIMA; UNCLASSIFIED DRUG; WARFARIN;

AGED; ANAMNESIS; BLOOD EXAMINATION; CASE REPORT; DRUG DOSE INCREASE; FEMALE; GENE MUTATION; GRAND MAL SEIZURE; HUMAN; LETTER; MESENTERIC VEIN THROMBOSIS; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHLEBOGRAPHY; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; SAGITTAL SINUS THROMBOSIS; SEQUENCE ANALYSIS; SUPERIOR MESENTERIC VEIN; THROMBOPHILIA; THROMBOSIS; VENOUS THROMBOEMBOLISM;

AGED; CEREBRAL ANGIOGRAPHY; DNA; EXONS; FEMALE; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MUTATION; PHLEBOGRAPHY; PROTEIN S; RECURRENCE; SAGITTAL SINUS THROMBOSIS; THROMBOPHILIA;

EID: 84856750751     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6122-x     Document Type: Letter

References (10)

1. 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 95:1935-1944
2. Kinoshita S, Iida H, Inoue S et al (2005) Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. Clin Biochem 38:908-915 (Pubitemid 41316649)
3. 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 83:683-690
4. Masuhr F, Mehraein S, Einhäupl K (2004) Cerebral venous and sinus thrombosis. J Neurol 251:11-23 (Pubitemid 38210485)
5. Bakshi R, Lindsay BD, Bates VE et al (1998) Cerebral venous infarctions presenting as enhancing space-occupying lesions: MRI findings. J Neuroimaging 8:210-215 (Pubitemid 28457986)
6. Filippidis A, Kapsalaki E, Patramani G et al (2009) Cerebral venous sinus thrombosis: review of the demographics, pathophysiology, current diagnosis, and treatment. Neurosurg Focus 27:1-11
7. Khan S, Dickerman JD (2006) Hereditary thrombophilia. Thromb J 4:15
8. Koeleman BP, Reitsma PH, Bertina RM (1997) Familial thrombophilia; a complex genetic disorder. Semin Hematol 34:256-264 (Pubitemid 27295158)
9. 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 70:395-403 (Pubitemid 23171426)
10. 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 70:244-246 (Pubitemid 23222476)