Reviews & Analysis

Complex regional pain syndrome (CRPS) is a persistent pain condition that usually affects a single limb, often following an injury. In this article, the authors review the latest advances in CRPS research, focusing on risk factors for the condition as well as biomarkers for diagnosis, treatment and clinical course prediction.

In this Review, MAGNIMS provides an update on the imaging features that differentiate multiple sclerosis (MS) from its most common imaging mimics and a summary of the red-flag MRI features that indicate a diagnosis other than MS.

The epidemiology, risk factors, causes, treatment and outcomes of intracerebral haemorrhage (ICH) in young adults (aged ∼18–50 years) can differ markedly from those in elderly patients with ICH. Challenges in this setting include high early mortality and long-term mortality as well as long-term disability and ICH recurrence in survivors.

Villemagne and colleagues describe advances in neuroimaging using selected amyloid-β (Aβ) and tau tracers. Aβ and tau neuroimaging can identify proteinopathies in at-risk patients, facilitating the early and accurate diagnosis of neurodegenerative disease. Applications of Aβ and tau neuroimaging in staging and monitoring of disease and treatment selection are also discussed.

Approval of the first disease-modifying therapy for spinal muscular atrophy (SMA), the antisense oligonucleotide nusinersen, represents a major breakthrough in neurodegenerative disease research but also has important medical, ethical and financial implications for SMA and beyond. This Review considers the current and future landscape for SMA therapy and the challenges and opportunities that are emerging.

The congenital myopathies are a group of early-onset neuromuscular disorders characterized by muscle weakness and distinctive structural abnormalities in skeletal muscle. In this Review, the authors summarize the genetic, clinical and pathological features of the main congenital myopathies and discuss current and future approaches to treatment and management.

In 2017, extensive research into multiple sclerosis (MS) resulted in improved diagnostic criteria, development of biomarkers that enable monitoring of disease evolution and treatment response over time, and identification of novel genetic markers of disease susceptibility. In addition, 2017 saw the first successful clinical trials of remyelination strategies and treatments for progressive MS.

In this article, Nonnekes and colleagues offer a new approach to the diagnosis of neurological disorders associated with altered gait, balance and posture. Their method takes the presenting sign or signs as the starting point of a focused differential diagnosis, which triggers a tailored search into the underlying neurological syndrome.

Here, Sweeney and colleagues focus on advanced neuroimaging evidence of blood–brain barrier (BBB) breakdown in several neurodegenerative disorders. The role of the ageing cerebrovascular system in neurodegeneration and dementia and the implications of BBB dysfunction for treatment and drug delivery are also discussed.

Alzheimer disease (AD) and related dementias share numerous mechanistic and epidemiological similarities with type 2 diabetes mellitus (T2DM). However, whether these associations result from synergistic interactions between the disorders is unclear. This Review summarizes our current knowledge regarding insulin signalling and resistance in the brain and discusses current evidence concerning neurological impairment in T2DM and insulin resistance in AD.

In 2017, dramatic advances have been made in the treatment of motor neuron diseases. New therapies have been approved for spinal muscular atrophy and amyotrophic lateral sclerosis, and a host of other therapies that are currently under development are showing promising results.

2017 saw the publication of new classifications for epilepsy and seizure types, which emphasize the importance of understanding the underlying disease mechanisms. This aetiology-based approach is already beginning to inform developments in therapies and trial design in the epilepsies.

The past year saw advances in endovascular treatment for acute stroke, speech therapy for aphasia after stroke, and cardiac disease management to prevent stroke. These treatments were characterized by more intensive or more extensive effects than standard care, necessitating thoughtful translation of the clinical trial findings into routine clinical practice.

Effective drug development for infantile-onset spinal muscular atrophy (SMA) requires a meaningful understanding of disease progression and reliable biomarkers. A new report presents the results of a longitudinal, multicentre, prospective natural history study of SMA, which are critical for the research of future therapies.

Results from the PATH study indicate that subcutaneous immunoglobulin is efficacious and well tolerated for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (CIDP). This finding represents an important step in the management of patients with immunoglobulin-responsive CIDP, with considerable implications for the cost of treatment and, most importantly, for these patients' quality of life.

In clinical trials, outcome measures might determine whether a drug is worthy of further development; in the clinic, they might guide important treatment decisions. Here, Tur and colleagues help clinicians and researchers navigate the maze of options for clinical, neuroimaging, patient-reported and composite outcome measures in multiple sclerosis.

A randomized, double-blind, sham-controlled trial, Brave Dreams, has shown no clinical or radiological benefit of percutaneous transluminal angioplasty (PTA) to correct chronic cerebrospinal venous insufficiency in patients with multiple sclerosis (MS). These results finally settle the scientific debate over whether PTA can improve clinical, radiological and symptomatic outcomes in this patient population.

200 years after James Parkinson's An Essay on the Shaking Palsy, 2017 has seen important advances that are driving a shift towards a broader and more holistic understanding of Parkinson disease aetiology and progression. This shift might finally pave the way to entirely novel and more effective prevention and management strategies.

In the past few years, novel insights into the links between the molecular and clinicopathological features of meningiomas have provided new opportunities for treatment options. Here, Matthias Preusser and colleagues discuss current progress and future prospects in the development of molecularly driven diagnosis and therapy for meningiomas.

The leukodystrophies are a group of inherited white matter disorders with diverse genetic backgrounds and substantial phenotypic variability. This Review provides a comprehensive overview of the leukodystrophies that present in adulthood, focusing on conditions for which treatments are available.