Volume 7 Issue 6, June 2011

Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy attributed to mutations in more than 30 different genes. A recent study identified the causative mutation in 67% of 787 screened patients with CMT, and the findings raise important issues concerning genetic testing for CMT.

A new survey of British neurologists shows that no commonly accepted model exists for the diagnosis of conversion disorder. Instead, the results indicate that the neurologist's diagnosis is influenced largely by their communication with the patients.

Biomarker development is important to the therapeutic imperative for neurodegenerative diseases, as biomarkers hold transformative promise for the design and conduct of clinical trials and, ultimately, for medical management of these diseases. Some of this promise is now being realized in Alzheimer disease, and progress in Parkinson disease is accelerating.

The American Academy of Neurology has updated its 1996 assessment of the value of plasma exchange in neurology. The report confirms the efficacy of plasma exchange in inflammatory neuropathy and possibly acute CNS demyelinating disease, but not in pediatric autoimmune neuropsychiatric disorders. Its conclusions, however, are limited by inadequate evidence.

Consistent with previous findings, two recent studies of temporal lobectomy from Kerala, India demonstrate that early seizure recurrence bodes poorly for long-term seizure control, and that relapse following drug discontinuation affects one-third of patients. Key questions in the field now concern advanced preoperative and intraoperative techniques for improving surgical outcomes.

Advances in the clinical and genetic understanding of Rett syndrome have meant that existing diagnostic guidelines for this neurodevelopmental disorder need to be revisited. New clinical criteria for the diagnosis of Rett syndrome by Neul and colleagues are welcome, but should more prominence be given to molecular diagnosis?

Neuralgic amyotrophy is a distinct, painful focal neuropathy with a broad spectrum of clinical phenotypes and a complex pathophysiology. The extent of disability experienced varies from patient to patient, but many individuals are left with residual disabilities affecting their everyday lives. In this Review, Nens van Alfen provides an overview of the current clinical and pathophysiological concepts and research topics in neuralgic amyotrophy.

Given the aging population, understanding the link between depression and dementia could be crucial to the potential treatment and prevention of dementia in the elderly. In this Review, Byers and Yaffe describe the evidence supporting a role for both earlier-life and late-life depression in dementia. A particular focus is given to the putative biological mechanisms that underlie this association and the implications of depression treatment and prevention for the development of dementia.

Cognitive impairment is commonly observed in patients with multiple sclerosis (MS), often with a heterogeneous neuropsychological presentation among patients. Benedict and Zivadinov describe the clinical features and neuropsychological tests for cognitive dysfunction in MS with a particular focus on the risk factors for this disorder. Protective factors and potential therapy for cognitive impairment in MS are also discussed.

The autoimmune myopathies, the best known of which are polymyositis and dermatomyositis, share a number of clinical features, including progressive proximal muscle weakness, and evidence of inflammation on muscle biopsy. Here, Mammen reviews the typical clinical presentations of the autoimmune myopathies, and discusses the relationships between distinct clinical phenotypes and myositis-specific autoantibodies.