ÌÇÐÄvlog

To determine whether patients with myasthenia gravis (MG) have serum antibodies to lipoprotein-related protein 4 (LRP4), Zhang and colleagues tested serum samples from 217 patients with MG with known status of serum antibodies to the acetylcholine receptor and muscle-specific kinase and samples from 121 control subjects (healthy individuals and those with other diseases) for antibodies to LRP4.

Richman et al determine the pathogenesis of anti–muscle-specific kinase (MuSK) myasthenia, a newly described severe form of myasthenia gravis associated with MuSK antibodies characterized by focal muscle weakness and wasting and absence of acetylcholine receptor antibodies, and determine whether antibodies to MuSK can induce disease in the mature neuromuscular junction.

Gibbons et al investigate the relationship between orthostatic hypotension, antibody titers, and cognitive impairment in patients with autoimmune autonomic ganglionopathy.

Farrar and coauthors used a prospective, double-center study design to gain further insight into the disease pathophysiologic process and potential adaptations by investigating whether cortical dysfunction or plasticity is a feature of spinal muscle atrophy (SMA).

Crompton et al expands the phenotypic spectrum of familial adult myoclonic epilepsy, highlights diagnostic pointers to this underrecognized disorder, and refines the FAME2 genetic locus.