Review Articles in 2012

Tourette syndrome is a complex neurobehavioural disorder that is believed to have a strong genetic component, but the exact aetiopathology of the disorder remains unclear. Denget al. provide an update on the genetics of Tourette syndrome, highlighting investigations into chromosomal aberrations and genetic mutations in patients with the disorder, and discussing how these studies have improved our understanding of the aetiology of Tourette syndrome.

Therapeutic hypothermia is widely recognized to have neuroprotective effects in various clinical settings, from cardiac arrest to traumatic brain injury; however, the practical application of this therapy is not without risk. Choi et al. highlight current methods and protocols of targeted temperature management, and discuss the practical considerations for hypothermia as a therapy for patients with acute brain injury.

Self-projection allows an individual to remember the past, simulate the future and imagine the viewpoints of others, and seems to be mediated by key frontal and temporal lobe regions of the so-called default network of the brain. Irish and colleagues discuss pathological changes to the default network and self-projective functions in patients with frontotemporal dementia (FTD), focusing on behavioral variant FTD and semantic dementia.

Chronic migraine is a severely disabling condition that is poorly recognized and undertreated by clinicians. Much debate has existed over the nomenclature and diagnostic criteria for this condition and, until 2007, there had been a paucity of clinical trial data for preventive therapies. In this Review, Diener and colleagues discuss the evolution of terminology and definitions used for chronic migraine, as well as the epidemiology, pathophysiology and treatment of this condition.

Predicting the molecular pathology that underlies neurodegeneration in patients with frontotemporal lobar degeneration (FTLD) is crucial to determine how to treat each individual. Whitwell and Josephs show how patterns of atrophy assessed on MRI can be used to identify signatures of pathology for each specific diagnosis within this broad spectrum of diseases. The authors discuss how these patterns of atrophy could be used as biomarkers of FTLD.

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.

Vaccination represents a mainstay in preventing infection but, in patients with multiple sclerosis (MS), this therapeutic approach can carry the risk of triggering a relapse. Hartung and colleagues review the safety of vaccines against various infections in patients with MS, and discuss the issue of vaccine efficacy in the context of disease-modifying MS drugs.

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.

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.