Paper of the Month

For January 2018, we have selected: Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. NEJM 2017;377:1713-1722. Spinal muscular atrophy (SMA) is caused by loss or dysfunction of the gene encoding survival motor neuron 1 protein (SMN1). Disease severity is also influenced by a second gene, SMN2, which can produce smaller amounts of this protein.

For December 2017, we have selected: Dwivedi R, Ramanujam B, Chandra PS, et al. Surgery for drug-resistant epilepsy in children. NEJM 2017;377:1639-1647. Drug-resistant epilepsy can be particularly devastating in children due to the heavy impact on psychosocial aspects and quality of life of these little patients and their family.

For November 2017, we have selected: Mittal S, Bjørnevik K, Im DS, et al. ß2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson’s disease. Science 2017;140:2295-2305. Disturbed proteostasis of α-synuclein is now thought to play a critical role in the pathogenesis of Parkinson’s disease (PD). Physiological functions of this protein include synaptic transport as well as involvement in the metabolism of membrane phospholipids, and in the differentiation and survival of dopaminergic neurons.

For October 2017, we have selected: Andersen G, Hedermann G, Witting N, Duno M, Andersen H, Vissing J. The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study. Brain 2017;140:2295-2305. Patients with myotonia congenita and paramyotonia congenita can be disabled by the myotonic phenomenon in the activities of daily living, with a huge impact on their quality of life.

For September 2017, we have selected: Hoffman EM, Watson JC, St Sauver J, Staff NP, Klein CJ. Association of long-term opioid therapy with functional status, adverse outcomes, and mortality among patients with polyneuropathy. JAMA Neurology 2017;74:773-779. Neuropathic pain is a common symptom in polyneuropathy that can be difficult to manage. Opioids are usually recommended as second-line treatment, with primary care physicians being mainly involved in opioid prescription.

or August 2017, we have selected: The Writing Group on behalf of the Edaravone (MCI-186) ALS 19 Study Group. Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomized, double-blind, placebo-controlled trial. Lancet Neurol 2017;16:505-512. There is evidence that oxidative stress induced by free radicals is a key factor of progression in amyotrophic lateral sclerosis (ALS).

For July 2017, we have selected: Fernandez HH, Factor SA, Hauser RA, et al. Randomized controlled trial of deutetrabenazine for tardive dyskinesia. Neurology 2017;88:2003-2010. Tardive dyskinesia (TD) is a relatively frequent complication of antipsychotic treatment. TD can be observed in any part of the body, can be very disabling, and often persists even after stopping the causative medication.

For June 2017, we have selected: Breitenstein C, Flöel A, Ziegler W, et al., for the FCET2EC study group. Intensive speech and language therapy in patients with chronic aphasia after stroke: a randomized, open-label, blinded-endpoint, controlled trial in health-care setting. Lancet Neurol 2017;389:1528-1538. Speech and language impairments are among the most disabling symptoms after a stroke. Patients with aphasia persisting 6 months (chronic aphasia) after a stroke are not infrequent (20%). Hence, the social and economic impact of chronic aphasia is substantial.

or May 2017 we have selected: Kermer P, Eschenfelder CC, Diener H-C, et al.  Antagonizing dabigatran by idarucizumab in cases of ischemic stroke or intracranial hemorrhage in Germany – A national case collection. International Journal of Stroke 2017; doi: 10.1177/1747493017701944. The use of non-vitamin-K-antagonist oral anticoagulants (NOACs) to prevent stroke in patients with atrial fibrillation is increasing worldwide.

For April 2017, we have selected: Chen H, Kwong JC, Copes R, et al.  Living near major roads and the incidence of dementia, Parkinson’s disease, and multiple sclerosis: a population-based cohort study. Lancet 2017:389;718-726. Some studies have suggested that smog and noise can play a role in the pathogenesis of neurodegenerative disorders by inducing oxidative stress, neuroinflammation, microglia and neuronal antibody activation.

For March 2017, we have selected: Timm FP, Houle TT, Grabitz SD, et al.  Migraine and risk of perioperative ischemic stroke and hospital readmission: hospital based registry study. BMJ 2017 Jan 10;356:i6635. doi: 10.1136/bmj.i6635. A higher risk of ischemic stroke has been found in patients with migraine, especially in those with migraine with aura.

For February 2017, we have selected: Grool AM, Aglipay M., Momoli F., et al., for the Pediatric Emergency Research Canada Concussion Team.  Association between early participation in physical activity following acute concussion and persistent postconcussive symptoms in children and adolescents. JAMA 2017:316;2504-2514. Practical recommendations in the management of concussion in pediatric patients have stressed the need of physical and cognitive rest starting immediately after the injury.

For January 2017, we have selected: Patel M, Agarwal K, Arshad Q, et al. Intratympanic methylprednisolone versus gentamicin in patients with unilateral Ménière’s disease: a randomized double-blind, comparative effectiveness trial. Lancet Neurol 2016;388:2753-2762. Disabling vertigo attacks and hearing loss are characteristics of Ménière’s disease. In patients with severe and frequent vertigo spells, intratympanic injections of gentamicin have proved to be effective, but at the price of permanent vestibular damage and hearing loss.

For December 2016 we have selected: Gonzales-Bermejo J, Morélot-Panzini C, Tanguy M-L, et al.  Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomized controlled triple-blind trial. Lancet Neurol 2016:15;1217-1227. The main cause of death in patients with amyotrophic lateral sclerosis (ALS) is related to respiratory failure. It has been hypothesized that diaphragm pacing (a technique that induces diaphragm contraction through the stimulation of the phrenic nerve) could slow the progression of respiratory muscle weakness, and increase alveolar ventilation and lung compliance in ALS patients.

For November 2016 we have selected: Cree BAC, Gourraud P-A, Oksenberg JR, et al. Long-term evolution of multiple sclerosis disability in the treatment era. Ann Neurol 2016:80;499-510. Studies describing the natural history of multiple sclerosis (MS) before the availability of disease-modifying treatments have reported a progression of the disease from the relapsing-remitting form to the secondary progressive form in about 50% of patients at 19 years after the onset.