Literature ReviewWhat's in the Literature? Editor(s): Lacomis, David MD; El-Dokla, Ahmed MD Author Information Department of Neurology, University of Pittsburgh School of Medicine, UPMC-Presbyterian, Pittsburgh, PA. (e-mail: [email protected]) The authors declare no conflict of interest. Journal of Clinical Neuromuscular Disease: March 2013 - Volume 14 - Issue 3 - p 127-133 doi: 10.1097/CND.0b013e3182861671 Buy Metrics Abstract We review 2 recent studies of the frequency of the C9ORF72 mutation in sporadic cases of amyotrophic lateral sclerosis (ALS). There is an incidence of 11% in Greece, 3.7% from mainland Italy, and 6.8% from Sardinia. We also review other reports of overlapping pathological features in familial ALS and mutations in sequestosome 1 and profilin genes. There is also a report of serotonergic pathways being affected in ALS and leading to spasticity and opening a new therapeutic avenue. Treatment for Dok-7 congenital myasthenic syndrome is discussed as well as the possible role of vitamin D deficiency in autoimmune myasthenia gravis. New serological potentially diagnostic autoantibody markers for inclusion body myositis are reviewed. Finally, a report of cervical radiculoplexus neuropathy in diabetics formally places this entity within the spectrum of diabetic neuropathies. © 2013 Lippincott Williams & Wilkins, Inc.
