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What's in the Literature?

Silvestri, Nicholas J. MD*; Wolfe, Gil I. MD*; Lacomis, David MD†,‡

Journal of Clinical Neuromuscular Disease: December 2014 - Volume 16 - Issue 2 - p 108–119
doi: 10.1097/CND.0000000000000061
Literature Review

In this issue, we review reports of a congenital myasthenic syndrome with agrin mutations, a distal myopathy phenotype, and presynaptic neurophysiology. Regarding myasthenia gravis, we address articles on health-related quality of life and therapeutic goals, the risk of osteoporosis, and thymic pathology and the possible role of positron emission tomography in detecting active metabolism when planning thymectomy. Topics covered in amyotrophic sclerosis include an increased risk of executive dysfunction in women, diagnostic delay, biomarkers including neurofilament and creatinine, and magnetic resonance imaging (gray and white matter). A large series of patients with monomelic amyotrophy is also discussed. A pharmacoepidemiologic study addressing an increased risk of peripheral neuropathy from fluoroquinolones is reviewed along with articles on neuropathy with monoclonal gammopathy with or without comparison with chronic inflammatory demyelinating polyneuropathy. A rational approach for identifying patients with mitochondrial POLG mutations is also reviewed. In the myopathy category, we highlight GNE myopathy, including the evolving study of replacement therapy and the evolution of endocrinopathies in myotonic dystrophy type 1.

*Department of Neurology, University at Buffalo School of Medicine and Biomedical Sciences, SUNY, Buffalo, NY; and

Departments of Neurology and

Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.


The authors report no conflicts of interest.

© 2014 by Lippincott Williams & Wilkins