Journal of the neurological sciences
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Primary leptomeningeal oligodendroglioma occurs very rarely and in only one patient a deletion of chromosome 1p has been reported. We describe a 60-year-old man with a prior history of an epileptic seizure three years earlier, who was referred because of depression and a rapid evolving cognitive impairment. Brain MRI showed a diffuse right parieto-occipital subarachnoid enhancing lesion without intra-axial extension. ⋯ To our knowledge this is the first report of a patient with a primary leptomeningeal anaplastic oligodendroglioma with diffuse spinal seeding bearing a 1p36/19q13 deletion. Our patient achieved a durable clinical and radiological remission following TMZ treatment. Molecular analysis with determination of chromosome 1p/19q deletions should be performed in all cases of leptomeningeal gliomas to select those patients who might benefit from TMZ chemotherapy.
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Childhood spinal muscular atrophy (SMA) is an autosomal recessive disorder characterised by loss of the alpha motor neurones of the spinal cord. SMA is cause by mutations in the survival motor neuron (SMN) gene. There are two copies of the SMN gene: SMN1 and SMN2. ⋯ Therefore, SMA is triggered by a fall in the levels of expressed full-length protein, and the levels expressed by the retained SMN2 gene control the severity. As a result, RNA manipulation to suppress the alternative splicing event and thus increase SMN exon 7 inclusion has emerged as an attractive therapeutic approach. In this review we have discussed the current state of bifunctional RNAs as a viable therapy, concentrating on recent advances and overall implications of this research on SMA.
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German Society of Neurology's stroke-unit concept includes a specialized stroke-unit team and advanced monitoring facilities in the early phase of stroke. Our aim was to evaluate the effectiveness of this semi-intensive stroke-unit (SI-SU) concept as compared with conventional care (CC) for patients with acute ischemic stroke (AIS) or transient ischemic attack (TIA). Over a 20-month period starting in March 2001, 755 patients with AIS or TIA were treated under SI-SU (n=393) or CC (n=362) conditions within an observational study. ⋯ In multivariate analysis, AIS patients (n=453) treated under SI-SU had significantly lower 1-year mortality and disability compared with the CC-treated patients (odds ratio [OR]: 0.47, 95% confidence interval [CI]: 0.27-0.83 and OR: 0.44, 95% CI: 0.22-0.87; respectively). For TIA patients, (n=262) SI-SU care showed no significant effect in any outcome variable. Our prospective study provides evidence that SI-SU with advanced early monitoring and treatment for patients suffering from AIS results in a better outcome 1 year after ischemic stroke if compared with conventional care.
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Case Reports
Relationship between neuropsychological outcome and DBS surgical trajectory and electrode location.
The outcome literature of subthalamic nuclei (STN) deep brain stimulation (DBS) suggests that cognitive declines are commonly reported following surgery. We hypothesized that differences in electrode position and surgical trajectory may lead to a differential neuropsychological outcome. ⋯ The results provide preliminary evidence that 6 months following bilateral STN DBS cognitive and emotional changes may be related to the surgical trajectory and electrode placement.
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Some patients with brain arteriovenous malformation (BAVM) present with focal neurological deficits (FNDs) unrelated to clinically discernable seizure activity or hemorrhage. The aim of this study is to determine demographic and morphological AVM characteristics associated with FNDs. ⋯ Focal neurologic deficits unrelated to seizures or hemorrhage are a rare initial presentation of BAVMs. The predominance of FNDs among brainstem and deeply located BAVMs and the lack of a significant association of BAVM size with FNDs indicate selective white matter pathway-specific vulnerability, the association with patient age a time dependent effect. The higher frequency of FNDs among women suggests gender-specificity of brain tissue vulnerability.