Cerebral vein thrombosis and prothrombin gene (G20210A) mutation.
Recently, prothrombin gene mutation G20210A has been associated with elevated thrombosis risk and rarely with cerebral vein thrombosis (CVT). Three patients are described who had this genetic predisposition and who developed CVT in an unusual constellation with other factors. In the first patient, the intake of valproic acid (VPA) may have played an aggravating role in the development of CVT; in the second patient diagnosis of coagulation disorder was made during pregnancy consultation 6 years after CVT; in the third patient the CVT occurred at the age of 78 years. In patients with CVT, coagulation-examinations should include tests for the prothrombin gene (G20210A) mutation.
Heckmann
J G
JG
Department of Neurology, University of Erlangen-Nuremberg, Schwabachanlage 6, 91054, Erlangen, Germany. josef.heckmann@neuro.med.uni-erlangen.de
Tomandl
B
B
Erbguth
F
F
Neidhardt
B
B
Zingsem
H
H
Neundörfer
B
B
D000328:Adult; D000367:Age Factors; D000368:Aged; D001778:Blood Coagulation Disorders / Q000150:complications; D002550:Cerebral Veins; D005260:Female; D020022:Genetic Predisposition to Disease / Q000209:etiology / Q000235:genetics; D006801:Humans; D020767:Intracranial Thrombosis / Q000209:etiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D014635:Valproic Acid / Q000009:adverse effects; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
D014635:Valproic Acid; D011516:Prothrombin