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The past year has seen some extraordinary activity in clinical amyotrophic lateral sclerosis (ALS) research. Two trials were completed, with negative results, but the discovery of novel ALS-associated genes, and body fluid and imaging biomarkers warrants cautious optimism. Here, we provide a snapshot of some of the main findings in 2014.
In 2013, two discoveries—that alkylating agent chemotherapy prolongs survival when added to radiotherapy for patients with anaplastic oligodendroglial tumours with 1p19q codeletion, and that bevacizumab prolongs progression-free survival in patients with newly diagnosed glioblastoma—have dominated debate in neuro-oncology. These findings could help to define new standards of care in malignant glioma.
Over the past year, we have witnessed major advances in several areas of epilepsy research, including genetics and disease mechanisms, neurodevelopmental effects of antiepileptic drugs, and new therapeutic approaches based on closed-loop neurostimulator systems. The findings have important implications both for clinical practice and for future research.
Genetic research in frontotemporal lobar degeneration (FTLD) is gaining momentum. Following the discovery of a repeat expansion in the gene C9 open reading frame 72 (C9orf72), three major genes and associated disease mechanisms and inclusion body pathologies have emerged, paving the way for personalized medicine in FTLD.
2013 witnessed advances in many aspects of multiple sclerosis (MS) research. Two studies highlighted a potential role for salt as an MS trigger, and one immunomodulatory drug performed well in clinical trials. Moreover, treatment effects of MS drugs were shown to correlate inversely with brain atrophy and disease progression.
Clinical trials in stroke intervention during the past year have yielded contrasting results. Endovascular therapies and procedures to reduce stroke risk caused by patent foramen ovale have failed to demonstrate superiority over standard medical treatments. By contrast, a trial of neuroprotection—traditionally thought to be ineffective in humans—offers hope.
When the motor symptoms of Parkinson disease (PD) manifest, the underlying pathological processes have already caused irreversible damage. Research breakthroughs in 2013 support the importance of diagnosing PD in the prodromal phase, suggest biomarkers that could help in identifying patients at high risk of PD, and improve upon current deep brain stimulation strategies.
