Volume 6 Issue 8, August 2010

Dramatic advances have been made in the treatment of motor dysfunction in both the early and late phases of Parkinson disease. Effective therapies for the nonmotor symptoms of this disease, however, remain a major unmet clinical need. A recent study has highlighted the dearth of clinical trials for some of these symptoms.

Drugs acting on the cholinergic system can improve or worsen cognitive abilities, and their effects are particularly pronounced in frail elderly individuals and patients with Alzheimer disease. Guidelines are urgently needed on the judicious use of cholinergic drugs.

A randomized, double-blind clinical trial that compared three widely used anticonvulsants for childhood absence epilepsy established that ethosuximide was the most appropriate first-line therapy for this condition. The study provides guidance for the treatment of this common childhood epilepsy where evidence-based recommendations have previously been lacking.

Patients with relapsing–remitting multiple sclerosis have been shown to benefit from disease-modifying treatments over prolonged periods. More focus should now be placed on monitoring the long-term evolution of this disease (making use of tools such as MRI), alongside the patients' response and adherence to such treatments.

Sialorrhea is a common and often debilitating, socially isolating and embarrassing symptom for patients with Parkinson disease (PD). The treatment of sialorrhea involves the management of saliva production, and is complicated in this disease by the risk of aspiration. Two novel approaches to the treatment of this symptom in PD have recently been published.

For the first time, medical sequencing has been successfully performed at the genome level to identify the causative gene in an individual with autosomal recessive Charcot–Marie–Tooth disease. The results of sequencing a proband with this condition highlight some of the opportunities and challenges of this seemingly ultimate approach to human genetics research and diagnostics.

A new study indicates that single-pulse transcranial magnetic stimulation can provide substantial long-lasting pain relief in patients with migraine with aura. The findings suggest that non-pharmacological therapies could be used to successfully abort migraine attacks in patients who find that drug therapies do not adequately control migraine symptoms.

A meta-analysis of results from the Oxford Vascular Study indicates that rates of mortality associated with subarachnoid hemorrhage have decreased over the past 30 years. The study does not, however, address whether day-to-day functioning and quality of life in subarachnoid hemorrhage survivors have improved over the same time period.

In this Review, Oksenberg and Baranzini examine the field of multiple sclerosis (MS) genetics, focusing on the abundance of data that has been generated from genome-wide association studies. The authors also highlight the challenges that lie ahead in this field, including the need for functional studies to connect the genetic variation observed in patients with the underlying pathophysiology of this condition.

The occurrence of cortical lesions in multiple sclerosis (MS) is an early phenomenon. Furthermore, immunohistochemical data indicate that demyelination of cortical gray matter is extensive in MS. In this Review, Calabrese and colleagues provide a summary of the main histopathological and MRI findings with regard to cortical lesions in MS, and discuss the evidence indicating that cortical lesion burden positively correlates with the severity of physical and cognitive impairments.

For certain types of epilepsy, the results of genetic testing can be used to guide diagnosis, patient management and/or reproductive choices. In this Review, Pal and colleagues highlight the use of genetic testing and genetic counseling in the context of epilepsy, providing a practical guide to the use of these approaches in five common clinical scenarios.

The adipocyte-derived hormone leptin provides a link between metabolic status and the immune system, and has been implicated in the pathogenesis of autoimmune disorders such as multiple sclerosis (MS). Matarese et al. review clinical and molecular evidence for an association between leptin and MS disease activity, and consider the prospects for metabolic and nutritional interventions in the treatment of this condition.

In the past, neuropathic pain in patients with diabetes has been largely attributed to hyperexcitability of peripheral nerves, but a key role for central mechanisms has emerged from studies conducted over the past 5 years. In this article, Fischer and Waxman discuss findings that implicate thalamic neurons in the central generation and amplification of pain in diabetes.