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This Month in Archives of Neurology
April 2011

This Month in Archives of Neurology

Arch Neurol. 2011;68(4):417-418. doi:10.1001/archneurol.2011.63
Advances in Translational Research in Neuromuscular Diseases

David PleasureArticle reviews the new therapies developed over the past 3 years for previously intractable diseases of skeletal muscle, neuromuscular junctions, peripheral nerves, and motor neurons that are now being incorporated into our standard neuromuscular clinical practice. He points out that the past 3 years were also marked by important advances in our understanding of the pathogenesis and pathophysiology of inherited and acquired neuromuscular diseases, advances that were acquired by the use of high-throughput nucleotide and protein analytic methods, novel animal models, and human-induced pluripotent stem cell–derived “diseases in a dish.” Over the next decade, he believes that we can reasonably anticipate that these insights, coupled with advances in our ability to modulate immune mechanisms, modify the activity of mutant genes, and perform gene replacement therapies with enhanced viral vector–based and stem cell–based delivery systems, will revolutionize our management of neuromuscular diseases.

Multiple Sclerosis Therapies in Pediatric Patients With Refractory Multiple Sclerosis

Yeh and colleaguesArticle assess the occurrence and management of refractory disease in a group of pediatric patients with multiple sclerosis (MS) treated with first-line disease-modifying therapies (DMTs) approved for adult patients within a network of pediatric MS centers in the United States. A multicenter, retrospective, longitudinal, open-label study design involved record review of 258 patients with pediatric-onset MS (68.6% female; mean [SD] age at disease onset, 13.2 [3.5] years; range of age at onset, 2.0-17.9 years) who were seen at 6 pediatric MS centers in the United States. They report that, although switching between first-line DMTs may be effective in pediatric patients with disease that is refractory to initial treatment, a subset of patients may require second-line therapeutic interventions.

TH1 and TH2 Response to Campylobacter jejuni Antigen in Guillain-Barré Syndrome

Nyati et alArticle, in an elegant study, determine the expression of proinflammatory and anti-inflammatory cytokines in lymphocytes from the progressive and recovery phases of Guillain-Barré syndrome after stimulation with Campylobacter jejuni outer membrane proteins. They show that upregulation of TH1 cytokines in the early disease course may be associated with immune-mediated disease progression due to neuronal inflammation, whereas upregulation of TH2 immune response during the later phase aids recovery from the disease.

Pediatric Neurological Complications of 2009 Pandemic Influenza A (H1N1)

Kedia and colleaguesArticle analyze the spectrum of neurological manifestations in children hospitalized with pandemic influenza A H1N1 virus of 2009 (pH1N1). They find that those infected with pH1N1 presented with a wide spectrum of neurological manifestations, which occurred primarily in individuals with preexisting neurological conditions. These individuals had a severe disease course, evidenced by need for intensive care services and relatively high rates of mortality or neurological disability. Children with underlying neurological conditions should be particularly targeted for influenza prevention and aggressive supportive treatment at the onset of influenza-like symptoms.

Role of the HLA System in the Association Between Multiple Sclerosis and Infectious Mononucleosis

Ramagopalan and colleaguesArticle note that a history of infectious mononucleosis (IM) is more common in patients with multiple sclerosis (MS); this may be a result of a common genetic or a causal association. In this study, they sought to determine whether MS and IM share common HLA associations. They report that the HLA-DRB1*01 allele is protective against developing MS; thus, a common genetic basis between IM and MS is not supported.

Efficacy of Natalizumab Therapy in Patients of African Descent With Relapsing Multiple Sclerosis

Cree et alArticle evaluate the efficacy of natalizumab use in patients of African descent with relapsing multiple sclerosis. They report that natalizumab therapy significantly improved relapse and accumulation of brain lesions in patients of African descent with relapsing multiple sclerosis.

Relapses over 2 years. A, Adjusted annualized relapse rate, showing 60% reduction relative to placebo (P = .02). B, Cumulative probability of relapse, with a hazard ratio of 0.323 (95% confidence interval, 0.130-0.803) (P = .02).

Relapses over 2 years. A, Adjusted annualized relapse rate, showing 60% reduction relative to placebo (P = .02). B, Cumulative probability of relapse, with a hazard ratio of 0.323 (95% confidence interval, 0.130-0.803) (P = .02).

Efficacy and Safety of Mitoxantrone in Patients With Highly Relapsing Neuromyelitis Optica

Kim et alArticle evaluate the efficacy and safety of mitoxantrone hydrochloride and determine how it exhibits a differential inhibitory effect on subsets of B cells in patients with highly relapsing neuromyelitis optica. During mitoxantrone treatment, the median annualized relapse rate was reduced by 75%, and 50% of patients became relapse free. Disability improved or stabilized in all patients. They conclude that treatment with mitoxantrone in patients with highly relapsing neuromyelitis optica significantly reduces relapse rates, resulting in subsequent functional stabilization or improvement.

Influence of the HLA-DRB1 Genotype on Antibody Development in Interferon Beta in Multiple Sclerosis

Buck and colleaguesArticle performed HLA genotyping in a large patient cohort to determine relevant HLA-DRB1 alleles associated with the susceptibility of anti–interferon beta antibody development. They show that HLA alleles seem to be the major genetic determinant of antibody development, allowing the prediction of the individual risk of patients before initiation of therapy.

Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration

Because mutations in progranulin (GRN) are an important cause of frontotemporal lobar degeneration (FTLD), Chen-Plotkin et alArticle assessed the relative frequency of unique mutations and their associated characteristics in 97 individuals with GRN mutations. They identified 97 individuals with FTLD-TDP with pathogenic GRN mutations (GRN + FTLD-TDP), assessed their genetic and clinical characteristics, and compared them with 453 patients with FTLD-TDP in which GRN mutations were excluded (GRN − FTLD-TDP). In a comprehensive genetic analysis with clinical endophenotype correlations, they report that GRN + FTLD-TDP differs in key features from GRN − FTLD-TDP.

Racial and Socioeconomic Disparities in Parkinsonism

Hemming and colleaguesArticle assess potential racial and socioeconomic disparities in patients with parkinsonism treated at a tertiary Movement Disorders Center. Racial and socioeconomic disparities exist among patients with parkinsonism being treated at a tertiary Movement Disorders Center. African Americans and those with lower socioeconomic status have greater disease severity and disability than whites. These disparities may be because of problems in diagnosis, access to care, physician referrals, and patient attitudes regarding the appropriate threshold for seeking treatment at a specialized center. Understanding and correcting these disparities may improve outcomes.