TGFBR2 mutation and MTHFR-C677T polymorphism in a Mexican mestizo population with cervico-cerebral artery dissection.

Spontaneous cervico-cerebral artery dissection (CCAD) is a common condition found among young patients with ischemic stroke. We examined the possible association between the polymorphism of methylenetetrahydrofolate reductase (MTHFR)-C677T and the gene mutation in transforming growth factor beta receptor II (TGFBR2) in a cohort of CCAD patients. One-hundred CCAD cases (65 males; mean age: 38.08 ± 10.68 years) and 100 matching controls were included. Ancestry informative markers (AIMs) were used to increase internal validity of the genetic analysis. Genotypes of the C677T polymorphism in the MTHFR gene were determined by polymerase chain reaction and restriction fragment length polymorphism; direct sequencing was used for a mutation analysis of the TGFBR2 gene. Associations were evaluated using a multivariate statistics, and Hardy-Weinberg equilibrium was analyzed. We also incorporated our data into a meta-analysis of the MTHFR-C677T. Sixty-three patients presented with vertebral and 37 with carotid artery dissection. Ancestry markers found a call rate on each over 95 %. All AIMs did not deviate from Hardy-Weinberg equilibrium (p > 0.05). The homozygous TT genotype was more frequent in cases (OR 2.04, CI 95 % 1.53-2.72, p = 0.005), whereas no significant difference was found on heterozygous CT genotype. TGFBR2 mutation was not present in our samples. In the meta-analysis of MTHFR/C677T variant, a total 613 cases and 1547 controls were analyzed; we found a moderate association for the recessive model genotype (OR 2.04, CI 95 % 1.53-2.72; p = 0.342; Z = 4.83; I (2) = 11.3). This study supports a positive association between the MTHFR-C677T polymorphism and genetically confirmed Mexican mestizo CCAD patients.

Time to recanalisation in patients with cerebral venous thrombosis under anticoagulation therapy.

BACKGROUND AND PURPOSE: Few studies have investigated the rates of recanalisation after cerebral venous thrombosis (CVT). Our objective was to investigate the recanalisation rate and to identify predictors of recanalisation in patients with CVT. METHODS: We included 102 patients with confirmed first-ever, non-septic CVT. All patients received anticoagulation for 12 months or until complete recanalisation. To assess recanalisation, patients underwent MR venography every 3 months until partial or complete recanalisation or for 12 months after diagnosis. We conducted two parallel analyses of complete recanalisation versus partial and no recanalisation versus any recanalisation. As a secondary objective we explored the influence of recanalisation on outcome and recurrent events. We calculated the probability of recanalisation using Kaplan-Meier analysis and conducted multivariate analysis using a Cox model. RESULTS: The mean age of patients was 33.5±11 years (80 (78.4%) women). Survival analysis indicated that 50% of the patients had any recanalisation (grades I, II and III) by 64 days and complete recanalisation (grade III) by 169 days. Adjusted Cox proportional model revealed that age <50 years (HR=11.5 95% CI=1.58 to 84.46, p=0.01) and isolated superior sagittal sinus thrombosis (HR=0.39, 95% CI=0.14 to 1.04, p=0.05) predict complete recanalisation, while age <50 years (HR=4.79; 95% CI=1.69 to 13.5, p=0.003) predicts any recanalisation. Patients with complete recanalisation had a greater chance of good functional outcome (HR=5.17; 95% CI=2.8 to 9.53, p<0.001). CONCLUSIONS: We found that recanalisation occurs over time, until month 11. Complete recanalisation may influence functional outcome.

Clinical spectrum of artery of Percheron infarct: clinical-radiological correlations.

BACKGROUND: The occlusion of the artery of Percheron results in bilateral thalamic and mesencephalic infarctions. In this series, we attempted to classify the subtypes of clinical presentations and long-term prognosis with regards to radiological patterns. METHODS: We sought the clinical and radiological findings of 15 (8 men and 7 women; mean age 48 years) consecutive patients with Percheron artery infarct over 10 years. We classified the clinical symptoms according to the presence of a mental status disturbance (MSD), behavioral amnesic impairment (BAI), aphasia/dysarthria, ocular movement disorders (OMDs), motor deficit, cerebellar signs, and others. The Percheron artery infarct images were classified as bilateral paramedian thalamic with rostral midbrain infarction (BPTRMI), bilateral paramedian thalamic without midbrain infarction (BPTWMI), bilateral paramedian and anterior thalamic with midbrain infarction (BPATMI), and bilateral paramedian and anterior thalamic without midbrain infarction. The outcome was evaluated using a modified Rankin Scale (mRS). RESULTS: OMD and MSD were the most common clinical manifestations in patients with BPTRMI (n = 8). BAI and MSD were the main clinical findings in patients with BPTWMI (n = 6). A patient with BPATMI had a combination of clinical manifestations. After a mean follow-up of 55 months, a good outcome (mRS score ≤ 2) was present in 25% of the patients with BPTRMI, 67% of the patients with BPTWMI, and in 1 patient with BPATMI. CONCLUSIONS: Our findings suggest that it is possible to identify clinical and radiological subgroups of Percheron artery infarct. The long-term follow-up outcome is generally good, except in cases with midbrain involvement.