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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.
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.
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.
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.
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.
Understanding the genetic mutations that cause hereditary sensory and autonomic neuropathies (HSANs) is crucial to identify new therapeutic targets for patients with these neurodegenerative diseases. Rotthier et al. review the currently known genetics of the HSANs, discussing the new findings that provide insights into the mechanisms of disease and highlighting how these discoveries could improve treatment for patients with these diseases.
The genetic ion channelopathies comprise a new and expanding field of neurological diseases. This Review focuses on the voltage-gated P/Q-type calcium channel, and specifically on inherited mutations in the gene encoding the α1 subunit. The authors consider various conditions arising from channel dysfunction, including episodic ataxia type 2, familial hemiplegic migraine-1 and spinocerebellar ataxia type 6.
Positive muscle phenomena arise from spontaneous activity originating in motor neurons or in the muscle itself. Gea Drost and colleagues discuss the pathophysiology and the electromyographic and clinical features of this group of disorders. They also provide an algorithm to aid the differential diagnosis of these muscle phenomena.
Defects in autophagy—a process that enables the degradation of unwanted or damaged intracellular proteins and organelles—are associated with the accumulation of aggregate-prone proteins. Defects in neuronal autophagy may have a role in neurodegenerative disease that are associated with aberrant protein accumulation, such as Alzheimer disease and Parkinson disease. Rubinsztein and Harris discuss how defects in autophagic pathways might cause these diseases and highlight how autophagy-modulating drugs might be used as therapy.
