Articles in 2015

Approximately 60% of people diagnosed with childhood-onset epilepsy are known to be in 5-year remission and off medication, or in complete remission. A new report confirms and consolidates these findings and gives further evidence of the long-term stability of remission in epilepsy. A future risk of relapse is suggested, which might be an overestimate.

Improved neuroimaging and molecular markers of Alzheimer disease (AD) have aided diagnosis of AD in the very early stages, and have facilitated differential diagnosis between AD and other neurodegenerative disorders with dementia. The finding that some older individuals can show amyloid-β pathology while remaining cognitively intact raises important questions regarding prevention strategies.

Mounting evidence suggests that autoantibodies contribute to the pathogenesis of demyelination in the PNS and CNS, and that such autoantibodies might impair saltatory conduction mediated by the node of Ranvier. In this Review, the authors provide a detailed description of the molecular anatomy of the node of Ranvier, discuss nodal, paranodal and juxtaparanodal proteins as likely autoantigens, and examine the role of autoantibodies in the pathogenesis of demyelinating disease.

Perihaematomal oedema (PHO) is an important pathophysiological marker of secondary injury following intracerebral haemorrhage. In this Review, the authors consider PHO in a novel framework and highlight the clinical relevance of the condition, both as a therapeutic target and as a surrogate marker for novel interventions that target secondary injury.

In this Review, Mead and Reilly present a new form of prion disease, characterized by systemic amyloidosis, diarrhoea, neuropathic pain and postural hypotension. So-called PrP systemic amyloidosis is caused by mutations in the prion protein gene that result in a premature stop codon, and all mutations identified to date are autosomal dominant. The authors recommend a standardized and conservative approach to the diagnosis and treatment of patients with PrP systemic amyloidosis.

The past year saw the 40^th anniversary of the Glasgow Coma Scale, which continues to be effective for monitoring patients with traumatic brain injury. Three new clinical trials were completed, but none revealed beneficial interventions. These failures have prompted exploration of more-subtle therapy targets, novel disease classifications and collaborative research paradigms.

Scientific progress in multiple sclerosis (MS) research spanned a number of areas in 2014, including therapeutics, disease classification, risk management, and disease mechanisms. Advances were particularly notable in the field of progressive MS. Altogether, the findings move us one step closer to a better understanding of this complex disease.

Deep brain stimulation (DBS) of the subthalamic nucleus or globus pallidus internus can substantially improve appendicular motor symptoms of Parkinson disease (PD); however, the effect of DBS on axial motor signs—such as gait impairment, postural instability and postural abnormalities—is less clear. In this practically oriented Review, Fasanoet al. discuss the most important considerations to establish the reasons for gait problems in patients receiving DBS, and suggest how to manage axial disability in these patients.

In 2014, novel, large-scale collaborative efforts and frameworks resulted in major advances in the epilepsy field, from publication of a new definition of epilepsy to important discoveries regarding aetiology, pathophysiology and management. These collaborative works provide a platform from which further advances are anticipated, and a model for future research.

Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of patients with movement disorders, as well as next-generation sequencing approaches.

Intravenous immunoglobulin (IVIg), is an effective anti-inflammatory and immunomodulatory treatment for many autoimmune diseases. In this Review, Lünemann and colleagues catalogue the evidence to support the use of IVIg in several neurological disorders, including Guillain–Barré syndrome, chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy. The authors also address diseases in which IVIg has not proven to be effective, and highlight avenues for future research, including drug development studies and clinical trials.