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.
Wang et al examine the effects of premutation alleles on major brain fiber tracts in males, who are at risk of developing fragile X-associated tremor/ataxia syndrome and may manifest subtle cognitive, social, and emotional disturbances before clinical involvement.
Lax and colleagues explore myelin components and mitochondrial changes within the central nervous system in patients with well-characterized mitochondrial disorders due to nuclear DNA or mitochondrial DNA mutations.
In a prospective cohort study, Tezenas du Montcel et al evaluate disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia and determine validity of clinical tools for therapeutic trials.
Boxer and coauthors determine the saccade abnormalities associated with autopsy-defined cases of frontotemporal lobar degeneration and of Alzheimer disease, because clinical frontotemporal dementia (FTD) syndromes can correspond to a number of different underlying neuropathologic FTD and non-FTD diagnoses.
Chaudhry et al describe a patient who presented with slowly progressive diffuse weakness, length-dependent sensory changes, and respiratory failure.
Using immunohistochemical analysis, Sahm et al analyze infiltration patterns of IDH1 mutant diffuse gliomas into the brain by identification of single tumor cells applying an antibody specific to mutant IDH1 R132H protein.
Platt and Griggs report the safe and successful use of the carbonic anhydrase inhibitor acetazolamide for treatment of patients with episodic ataxia and periodic paralysis who had been denied treatment because of a history of severe allergic reactions to antibiotic sulfonamides.
Laforêt and colleagues studied a 37-year-old woman with neutral lipid storage disease (NLSD) with myopathy, who cycled while lipid oxidation was assessed using U-13C palmitate tracer dilution technique. The goal was to determine whether impaired exercise capacity in NLSD with myopathy is solely caused by muscle weakness or whether a defect in energy metabolism (blocked fat oxidation) may also play a role.
Katsuno et al outline the molecular pathophysiology, summarize the therapeutic strategies currently being developed, and discuss the future direction of translational research of spinal and bulbar muscular atrophy.
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