What's in the Literature?

Abstract

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.