Feature Channels: Neuro

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As potentially effective new treatments for neurofibromatosis (NF) are developed, standardized research approaches—including outcome measures specific to NF—are needed. The first report from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration has been published as a supplement to Neurology®, the Official Journal of the American Academy of Neurology (AAN). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

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For several years, epilepsy practitioners have questioned the U.S. Food and Drug Administration’s (FDA) definition of bioequivalence as it applies to narrow therapeutic index (NTI) drugs, such as those used for epilepsy. In response to these concerns, the FDA has sponsored 3 studies of antiepileptic drugs and also convened an advisory board to help determine which drugs are NTI. The new NTI definition and new bioequivalence guidelines and their impact will be a major point of discussion during a town hall session held with leaders from the FDA during the American Epilepsy Society's 67th annual meeting in Washington DC.

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Patients with epilepsy and, in particular, those with severe syndromic forms of the disorder, harbor a risk of sudden unexplained death in epilepsy, or SUDEP. Cardiac arrhythmias are a proposed cause. In a test of this theory, researchers have demonstrated that mice harboring a human SCN1A gene mutation that results in Dravet Syndrome (DS), a severe and intractable genetic epilepsy, have electrical disturbances in the heart that culminate in ventricular fibrillation and sudden cardiac death. Their findings, reported today at the American Epilepsy Society (AES) 67th annual meeting, suggest there may be novel strategies aimed at preventing SUDEP (Platform C.02 / abstract 1751046 – Heart Rate Variability Analysis Reveals Altered Autonomic Tone in Mouse Model of Dravet Syndrome).

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Epilepsy patients with complex partial seizures have impaired consciousness during seizure episodes and typically have no memory of the event. However, the mechanisms of seizure unconsciousness are unclear. Research reported today at the American Epilepsy Society (AES) 67th Annual Meeting suggests that the mechanism underlying loss of awareness during complex partial seizures is likely the same as that involved in slow wave or deep sleep.

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Researchers from the Monell Center and collaborating institutions have found that as much as 30 percent of the large array of human olfactory receptor differs between any two individuals. This substantial variation is in turn reflected by variability in how each person perceives odors.

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Washington, DC, December 8, 2013 - The management of refractory convulsive status epilepticus (RCSE) varies at different medical centers and from patient to patient. Rapid success in aborting these non-stop seizures is crucial as the risk of neurological damage is high and, though rare, may result in death depending on seizure duration. By pooling data and analyzing current RCSE management practices, researchers representing a multicenter network of tertiary referral hospitals in the U.S. conducted a study that could lead to improved treatment outcomes for potentially life-threatening seizures.

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A long-standing hypothesis holds that prolonged febrile (fever induced) seizures (PFS), the most common form of childhood convulsive status epilepticus (CSE), cause mesial temporal sclerosis (MTS). CSE is a single seizure, or to or more seizures between which consciousness is not regained, lasting for more than 30 minutes. In MTS there is a loss of neurons and scarring of a key brain structure called the hippocampus. Whether prolonged convulsions lead to long-term damage to hippocampus or MTS is uncertain. A team of investigators from the United Kingdom and United States looking into this question has found that a subgroup, and not all, children who experience CSE have impaired hippocampal growth years after the prolonged seizure.

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Washington, DC, December 8 - Children with epilepsy are at high risk for depression, anxiety, and behavioral functioning disorders. Mood and behavior are known to change or improve in children following epilepsy surgery, but research is inconsistent concerning the extent of the change.

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Washington, DC, December 8 - Resective surgery is seldom used in epilepsy patients aged 60 and older despite its potential to offer seizure freedom. Older age may deter referrals to specialized epilepsy centers given concern of increased surgical risk due to age and presence of other health problems common in the elderly.

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Resective surgery is an effective treatment for drug-resistant epilepsy. To investigate the effect of epilepsy surgery on patients lives, researchers from the Comprehensive Epilepsy Program at the Henry Ford Hospital in Detroit conducted a long-term retrospective follow up of surgical patients and correlated post-surgical psychosocial outcomes with seizure outcome and brain area surgically treated.

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Seizures in people with epilepsy are commonly treated with anti-epileptic drugs (AEDs) but 30-40 percent do not achieve adequate seizure control, predisposing them to severe health risks, impaired quality of life and higher healthcare costs.

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Scientists screening the DNA of large cohorts for known and suspected epilepsy associated genes are finding that, while some genes are implicated in discrete phenotypes or forms of epilepsy, other genes are implicated in a wider range of phenotypes. Although ion channel genes are a common cause of epilepsy, the researchers also report a significant number of epilepsy patients with mutations in non-ion channel genes. The studies have important implications for treatment, prognosis and risk counseling.

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Patients with epilepsy often undergo evaluation by concurrent video and EEG monitoring (vEEG) for therapeutic planning, including possible epilepsy surgery. Seizures during monitoring increase the diagnostic yield and requires the withdrawal of anticonvulsant drugs (AEDs) to allow seizures to occur. A frequently asked question in clinical practice concerns the safety and long-term effect of AED withdrawal or discontinuation in this diagnostic procedure.

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Surgery for drug–resistant epilepsy is performed with the dual aim of obtaining seizure freedom and potential for reducing or discontinuing anticonvulsant drugs (AEDs). Most epilepsy patients become seizure free with surgery. But there are no criteria for the timing of AED withdrawal following the procedure, and the long-term effect of post-operative AED withdrawal is unclear.

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MRI-Guided Stereotactic Laser Ablation (SLA) of the hippocampus to control seizures in people with temporal lobe epilepsy (TLE) may result in seizure control that approaches that from anterior temporal lobectory or selective amygdalohippocampectomy and better cognitive outcomes than any of the standard open resections, according to a study presented at the American Epilepsy Society’s 67th Annual Meeting in Washington DC. If the SLA continues to prove safe and shows adequate efficacy for seizure control, the technique has the potential to drastically change brain surgery.

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MRI-Guided Stereotactic Laser Ablation (SLA) of the hippocampus to control seizures in people with temporal lobe epilepsy (TLE) may result in seizure control that approaches that from anterior temporal lobectory or selective amygdalohippocampectomy and better cognitive outcomes than any of the standard open resections, according to a study presented at the American Epilepsy Society’s 67th Annual Meeting in Washington DC. If the SLA continues to prove safe and shows adequate efficacy for seizure control, the technique has the potential to drastically change brain surgery.

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Researchers present the findings from a 2-year multicenter randomized double blinded controlled clinical study and a 7 year long-term treatment study of the NeuroPace RNS System at the American Epilepsy Society’s 67th Annual Meeting. The RNS System is a novel, implantable therapeutic device that delivers responsive neurostimulation, an advanced technology designed to detect abnormal electrical activity in the brain and respond by delivering imperceptible levels of electrical stimulation to normalize brain activity before an individual experiences seizures. NeuroPace received pre-market approval from the U.S. Food and Drug Administration in November.

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Epilepsy surgery is a very effective intervention for patients with treatment resistant epilepsy. The most successful and most common epilepsy surgery is temporal lobectomy, which produces seizure freedom in approximately two-thirds of patients. The strongest candidates for this type of surgery are those who have had treatment resistant epilepsy which includes 30-40 percent of all epilepsy cases. Even with this clear benefit, epilepsy specialists today reported at the Presidential Symposia during the American Epilepsy Society Annual Meeting, that the overall number of surgeries in adults, as well as the number of temporal lobectomies, has decreased from their peaks.

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Using a powerful gene-hunting technique for the first time in mammalian brain cells, researchers at Johns Hopkins report they have identified a gene involved in building the circuitry that relays signals through the brain. The gene is a likely player in the aging process in the brain, the researchers say. Additionally, in demonstrating the usefulness of the new method, the discovery paves the way for faster progress toward identifying genes involved in complex mental illnesses such as autism and schizophrenia — as well as potential drugs for such conditions.

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For patients recovering from a traumatic brain injury (TBI), the rehabilitation process – compensating for changes in functioning, adaptation and even community reintegration – can be challenging. Unfortunately, not all rehab programs are created equal, and with the differences comes a difference in outcomes, according to a first-of-its-kind study published in The Journal of Head Trauma Rehabilitation.

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A national group of leading scientists, including one University of Alabama at Birmingham expert, says fewer people are dying of stroke, but the mechanisms remain unknown.

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Any athlete with concussion symptoms should not be allowed to return to play on the same day, according to the latest consensus statement on sports-related concussion. The updated guidelines are summarized in Neurosurgery, official journal of the Congress of Neurological Surgeons. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

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Scientists who study neuroeconomics, a new field that combines economic theories and brain science, report new insights into how the brain handles decisions involving two equally appealing options. An emerging field of study known as neuroeconomics combines the economists’ insights with brain science to learn more about decision-making processes and how they can go awry. In the Dec. 8 issue of Neuron, one of the field’s founders reports new links between brain cell activity and choices where two options have equal appeal.

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University of Adelaide researchers have discovered the first evidence that the nerves in the stomach act as a circadian clock, limiting food intake to specific times of the day.

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A vaccine used to prevent tuberculosis in other parts of the world may help prevent multiple sclerosis (MS) in people who show the beginning signs of the disease, according to a new study published in the December 4, 2013, online issue of Neurology®, the medical journal of the American Academy of Neurology.

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A University of Wisconsin-Madison research team reports today that the brain can produce and release estrogen — a discovery that may lead to a better understanding of hormonal changes observed from before birth throughout the entire aging process.

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University of Utah and German biologists discovered how nerve cells recycle tiny bubbles or “vesicles” that send chemical nerve signals from one cell to the next. The process is much faster and different than two previously proposed mechanisms for recycling the bubbles.

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The Congress of Neurological Surgeons (CNS) hosted a groundbreaking Innovation and Technology Symposium at its recent Annual Meeting in San Francisco. In a first-of-its-kind gathering, neurosurgeons, lead engineers, inventors, researchers, CEOs and venture capitalists gathered to discuss breakthrough technologies and devices in cerebrovascular/endovascular, spine and brain tumor procedures.

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How malleable are we? Youths who experienced early maternal deprivation — specifically, time in an institution such as an orphanage — show similar responses to their adoptive mother and to strangers in a brain structure called the amygdala; for children never raised in an institutional setting, the amygdala is far more active in response to the adoptive mother alone.

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Prenatal exposure to alcohol severely disrupts major features of brain development that potentially lead to increased anxiety and poor motor function, conditions typical in humans with Fetal Alcohol Spectrum Disorders, say neuroscientists at UC Riverside.

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Movements so minute they cannot be detected by the human eye are being analyzed by researchers to diagnose autism spectrum disorder and determine its severity in children and young adults.

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Mount Sinai researchers show that synaptic health in the brain is closely linked to cognitive decline. Further, they discover that estrogen restores synaptic health and also improves working memory.

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It’s been widely reported that football and other contact sports increase the risk of a debilitating neurological condition called chronic traumatic encephalopathy (CTE). But a new study finds little evidence to support such a link.

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Scientists at The Scripps Research Institute have discovered a natural mechanism that cells use to protect mitochondria, the tiny but essential “power plants” that provide chemical energy for cells throughout the body.

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RNA molecules are generally thought to be “silent” when stowed in cytoplasmic granules. But a protein mutated in some ALS patients forms granules that permit translation of stored RNAs. The finding identifies a new mechanism that could contribute to the pathology of the disease.

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In their study, Sylvie Belleville and her team accurately predicted (at a rate of 90%) which of their research subjects with mild cognitive impairment would receive a clinical diagnosis of Alzheimer's disease within the following two years and which subjects would not develop this disease.

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A new study led by University of Kentucky researchers suggests that a diet low in vitamin D causes damage to the brain.

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A new brain connectivity study from Penn Medicine published today in the Proceedings of the National Academy of Sciences found striking differences in the neural wiring of men and women that’s lending credence to some commonly-held beliefs about their behavior.

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Improvements in education levels, health care and lifestyle credited for decline in dementia risk.

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Scientists may have found a new treatment that can help people with spinal cord injuries walk better. The research is published in the November 27, 2013, online issue of Neurology®, the medical journal of the American Academy of Neurology.

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A team of Stony Brook University researchers has discovered in a model of Alzheimer’s disease that early accumulation of a small protein, known as amyloid β, in the blood vessels of the brain can drive early cognitive impairment.

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Establishing links between genes, the brain and human behavior is a central issue in cognitive neuroscience research, but studying how genes influence cognitive abilities and behavior as the brain develops from childhood to adulthood has proven difficult. Now, an international team of scientists has made inroads to understanding how genes influence brain structure and cognitive abilities and how neural circuits produce language.

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Study uses patient-derived stem cells to show that a mutation in the α-synuclein gene causes increased vulnerability to pesticides, leading to Parkinson’s disease.

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NIBIB-funded researchers at Texas A&M are using the unique contraction and expansion properties of shape memory polymer foam to design a much improved treatment for brain aneurysms, which cause severe neurological damage or death for 30,000 Americans each year.

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People with epilepsy may have a new high-tech way to manage hard-to-control seizures. A new implantable medical device that delivers responsive neurostimulation has been approved by the U.S. Food and Drug Administration. The technology is designed to detect abnormal activity in the brain and respond and deliver subtle levels of electrical stimulation to normalize brain activity before an individual experiences seizures. The treatment is available at all Mayo Clinic sites.

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Our sense of smell is often the first response to environmental stimuli. Odors trigger neurons in the brain that alert us to take action. However, there is often more than one odor in the environment, such as in coffee shops or grocery stores. How does our brain process multiple odors received simultaneously? Barani Raman, PhD, of the Washington University in St. Louis School of Engineering & Applied Science is using locusts to help find the answer.

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Most people have experienced the effects of circadian-rhythm disruption. To have any hope of modulating our biological “clocks,” we need to first understand the physiology at play. A new JGP study helps explain some of the biophysical processes underlying regulation of circadian rhythms.

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As we age, our body rhythms lose time before they finally stop. Breaking the body clock by genetically disrupting a core clock gene, Bmal1, in mice has long been known to accelerate aging , causing arthritis, hair loss, cataracts, and premature death. New research now reveals that the nerve cells of these mice with broken clocks show signs of deterioration before the externally visible signs of aging are apparent, raising the possibility of novel approaches to staving off or delaying neurodegeneration.

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A new discovery may help explain the surprisingly strong connections between sleep problems and neurodegenerative conditions such as Alzheimer’s disease.

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Mayo Clinic researchers found that improvement of mood over the course of post-acute brain rehabilitation is associated with increased participation in day-to-day activities, independent living, and ability to work after rehabilitation is complete.