What's in the literature?

In this issue, we review new information related to amyotrophic lateral sclerosis, diagnostic testing practices, differences in clinical management between patients seen in multidisciplinary and regular clinics, and managing end-of-life care issues. There is new information on genes and genetic risk factors and environmental risk factors. There are 2 other forms of motor neuron disease, progressive muscular atrophy, and spinal muscular atrophy that are also considered. Inflammatory neuropathies are important to identify as they can be treated. Ultrasound is being applied to the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy, but its utility is more likely supportive than as a stand-alone test. There is some evidence that follow-up nerve conduction studies can reveal patients with chronic inflammatory demyelinating polyradiculoneuropathy who might relapse if intravenous immunoglobulin is stopped. The spectrum of inflammatory neuropathies is broad and some may have focal pathology at the node of Ranvier, and the term "nodopathies" has been proposed to highlight this important region of the nerve. The diagnosis of hereditary neuropathies relies on gene testing, and data on the frequency of particular mutations show the utility of initial testing for 4 genes. Chemotherapeutic drugs can be toxic to nerves, and the incidence of neuropathies from bortezomib is discussed. The risk of development of diabetes mellitus in patients with myasthenia gravis (MG) is reviewed as is the risk of development of MG after thymectomy in patients who are asymptomatic preoperatively. A vaccine to "cure" MG has been tested in animal models. Recent work in Oxford has demonstrated direct evidence that antibodies from patients with Lambert-Eaton myasthenic syndrome acts directly on P/Q-type voltage-gated calcium channels to inhibit exocytosis of synaptic vesicles. The clinical and pathological features of myopathy associated with mutations in MATR-3 are reviewed. The natural history of myotonic dystrophy type 1 (DM1) is discussed as are potential therapies to treat myotonia in a number of disorders.