News & Views in 2012

Psychiatric disorders in epilepsy have been considered a consequence of the seizure disorder. In recent years, however, a bidirectional relationship has been suggested. Two new studies have examined recent epidemiological data that further supports this hypothesis, highlighting common pathogenic mechanisms that operate in both conditions.

Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.

The success of clinical trials in Huntington disease (HD) will depend to a large degree on the quality of the outcome measures. Using data from the TRACK-HD study, a recent publication proposes a battery of assessments that could be used as outcomes in future clinical trials in patients with early HD.

Promising results on newborn testing for Duchenne muscular dystrophy indicate that widespread screening could become routinely available. Nevertheless, newborn testing raises ethical, social and scientific concerns that need careful consideration to maximize benefit for patients, their families and health-care providers.

Recent analysis of treatment patterns and survival of newly diagnosed patients with glioblastoma in community settings in the USA has shown that the medical community rapidly adjusted to the new standard of treatment—the so-called 'Stupp regimen'. The findings are encouraging, but further research is needed to improve patient survival.

Recent guidelines, based on evidence of detrimental pharmacokinetic interactions between antiepileptic drugs (AEDs) and antiretroviral drugs, provide a new framework for the selection of AED medication for HIV-infected individuals. However, AED use, antiretroviral therapy and HIV infection all have overlapping nonpharmacokinetic outcomes, which the guidelines do not address.

Down syndrome (DS) is associated with early onset of neuropathology that is indistinguishable from Alzheimer disease (AD), and is typically followed by cognitive decline two decades later. A recent study has reported that the AD drug memantine failed to improve cognitive performance and function in middle-aged patients with DS.

An accepted classification system exists for ischaemic stroke in adults; however, this system is of limited use for categorizing strokes in children, as the aetiology of paediatric stroke is often different from that in adults. A new anatomically based classification system provides standardized criteria specifically for paediatric stroke.

MRI-based diagnostic criteria for multiple sclerosis (MS) have been devised for use in adult populations, but diagnosis of MS in children remains a challenge. To address this issue, a new study attempts to identify MRI characteristics that predict development of MS in children with acute demyelinating syndromes.

Predicting response to therapy in individual patients with epilepsy is not straightforward. An exploration of long-term surgical outcomes in an epilepsy cohort has identified seven patterns of remission and relapse, and the probability of each outcome has been calculated. The study provides new predictors of postoperative outcomes in epilepsy.

Intensive glucose management, if begun early, diminishes the long-term complications of diabetes. Whether the cognitive domain also benefits from such therapy is not clear, and has remained subject to investigation. Do the new results from the ACCORD-MIND study settle the issue?

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

Undetected spinal fractures can cause damage of the spinal cord and lead to adverse neurological outcomes. A recent study on a pediatric cohort has shown that noncontiguous spinal injuries are often missed on primary radiographic examination, highlighting the need for combined radiographic, clinical and neurophysiological examinations to detect these lesions.

The geometry of carotid arteries, both normal and narrowed, produces flow characteristics that predict the location of atherosclerosis and the site of plaque rupture. A recent study has shown that the upstream carotid plaque undergoes profound biochemical and apoptotic changes that are closely linked to the development of stroke symptoms.

Subarachnoid hemorrhage is a rare but potentially fatal cause of headache. According to results from a recent study, CT scans enable clinicians to identify patients with subarachnoid hemorrhage, with a high sensitivity. Does CT imaging rule out the need for lumbar puncture in patients who present with headache?