Year in Review

In 2012, studies of autosomal dominant Alzheimer disease (AD), late-onset AD, and a rare genetic mutation of amyloid precursor protein provided support for the critical role of amyloid in AD pathogenesis. Increasing evidence implicated cell-to-cell transmission in the spread of tau and amyloid, highlighting novel targets for therapeutic intervention.

2012 witnessed important developments for multiple sclerosis, including successful phase III trials of novel oral therapeutics and identification of the potassium channel KIR4.1 as an autoimmune target. Additionally, the lung was highlighted as an important site for immune-cell programming, and the relevance of a TNF receptor variant was clarified.

In 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered C9ORF72 repeat expansions, which cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients.

Research on epilepsies in 2012 has substantially advanced our knowledge of these often devastating conditions. From important discoveries that revealed causative factors and the molecular basis of disease, to major implications for surgical decision-making, these studies set the scene for future advances in the field.

Several clinical trials and experimental studies that could have a major impact on the treatment of patients with ischaemic stroke were published in 2012. The studies cover all therapeutic options, including stroke prevention, recanalization and thrombolysis, neuroprotection, and promising new therapeutic approaches focused on neurorepair.

Research in movement disorders in 2012 has improved our understanding of the pathogenic mechanisms of disease and led to development of potential novel therapeutic approaches. Key advances were linked to mechanisms underlying spread of neurodegenerative pathology, immunotherapy, stem cells, genetics and deep brain stimulation in parkinsonism and related disorders.

Multiple sclerosis research in 2011 produced a combination of new therapeutic developments and innovative findings. Teriflunomide showed beneficial effects in a phase III trial, quantification methods for MRI lesions that should improve monitoring of disease progression were devised, and a link between high cholesterol and low vitamin D emerged.

Research published in 2011 identified important factors related to serious adverse effects of antiepileptic drugs and sudden unexpected death in epilepsy, along with a potential new treatment and a promising marker of epileptogenesis. Further advances in these areas are urgently needed to improve the lives of people with epilepsy.

Several pivotal clinical trials that could have a major impact on the care of patients with stroke were published in 2011. The studies cover a wide range of stroke-care aspects, including stroke prevention, imaging to select patients for thrombolysis, therapies for stroke recovery, and stroke registries to improve care quality.

In 2011, researchers used imaging techniques to investigate brain microbleeds in patients with dementia and highlighted how lobar microbleeds could be used as a marker for amyloid pathology and for predicting mortality. New guidelines on the inclusion and exclusion of participants with microbleeds in anti-amyloid clinical trials were also published.

The discovery of mutations that contribute to movement disorders has facilitated the identification of converging pathways and novel therapeutic targets. Successful translation of these research findings into clinical practice will require identification of early markers of disease progression, and recent research indicates that progress is being made in this area.

In 2010, progress in the headache field was marked by four very different key advances: clarification of the mechanisms of extracephalic allodynia, approval of onabotulinumtoxinA for chronic migraine prophylaxis, validation of combined pharmacological and behavioral treatments for migraine, and establishment of oxygen as an effective acute treatment for cluster headache.

Many articles were published in 2010 that had or will conceivably have a major impact on the field of stroke. With regard to practical patient care, however, several pivotal studies investigating avenues for optimal management of carotid artery atherosclerotic disease were especially important.

The most appropriate treatment for absence seizures and the teratogenic effects of valproate were clarified in 2010. Advances were also made in the use of both functional MRI to predict the adverse effects of neurosurgical resection and electrical stimulation to control epilepsy in patients who are not suitable for resection.

2010 represented a milestone in the history of multiple sclerosis monitoring and treatment. MRI and immunological biomarkers were identified to track disease evolution and, ultimately, to guide treatment decisions. Moreover, oral disease-modifying therapies emerged that should increase treatment regimen adherence and improve patient outcomes.

Advances in Alzheimer disease (AD) research during 2010 have identified promising novel diagnostic tools and therapeutic targets for this condition, and suggest that amyloid-β immunotherapy reduces plaque load in patients with AD. A new lexicon for AD has also been proposed.

Research conducted in 2010 has shown that surgical and dopaminergic treatments for Parkinson disease (PD) can promote the development of nonmotor symptoms, such as impulse control disorders and apathy. Lesions in cholinergic pathways have also been shown to partly underlie deficits in gait and posture in patients with advanced PD.