TY - JOUR T1 - Prothrombotic mutations and ischaemic stroke at a young age in two sisters JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 958 LP - 959 DO - 10.1136/jnnp.65.6.958 VL - 65 IS - 6 AU - J HAAN AU - G G SCHOONMAN AU - G M TERWINDT AU - M D FERRARI AU - R M BERTINA AU - L J KAPPELLE AU - J HAAN Y1 - 1998/12/01 UR - http://jnnp.bmj.com/content/65/6/958.abstract N2 - We examined two sisters who had an ischaemic stroke at 32 and 41 years respectively. One had the prothrombin 20210 G to A variant1 and mild hyperhomocysteinaemia. The other had two prothrombotic mutations: the factor V Leiden mutation2 and the prothrombin 20210 G to A variant.1 We argue that these abnormalities may have caused the strokes.Patient III-36 (pedigree, figure) was admitted at the age of 41 years with a left sided paresis. Her medical history was unremarkable, including the absence of migraine. Neurological examination showed a mild left sided paresis. Blood pressure was normal. She had no livedo reticularis. Brain CT showed a right sided cerebral infarct. Cardiological investigation, carotid angiography, and laboratory testing were normal, including investigation of antiphospholipid antibodies, lipid profile, fasting and post-methionine loading homocysteine concentrations, antithrombin III, protein C, and protein S. The patient was treated with aspirin and did not have arterial ischaemic disease (or venous thrombosis) until now. Resistance to activated protein C (APC) was measured as described2 and the n-APC-SR was 0.66 (normal>0.84). As expected from this value, the patient was found to be a carrier of the factor V Leiden mutation.2 Subsequently, she was also shown to be a carrier of the prothrombin … ER -