Neurologists Resource Pages

  • Researchers Discover Promising New Gene Therapy Approach for Spinal Muscular Atrophy

    A new genetic approach to restore the expression of the gene that causes spinal muscular atrophy (SMA) in patients’ cells holds promise to effectively and permanently treat the disease, researchers suggest. The study, “Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded […]

  • Zolgensma: Caregiver Counseling

    As Zolgensma was recently approved by the FDA – in May 2019 – there has been little caregiver education on the therapy and how best to monitor SMA patients undergoing the treatment. Specifically, caregivers should be provided information on how best to mitigate risks associated with Zolgensma. There are four main […]

  • Administering Zolgensma

    Zolgensma, or onasemnogene abeparvovec, is an adeno-associated virus vector-based gene therapy that was approved by the FDA in May 2019. Given the newness of this therapy, it is important that healthcare providers are educated on specific information regarding the administration of Zolgensma so that they can optimize […]

  • How Salbutamol May Help Patients with Spinal Muscular Atrophy: New Insights

    The vast majority of spinal muscular atrophy (SMA) cases are caused by a mutation in the survival motor neuron 1 (SMN1) gene, which leads to abnormally low levels of SMN1 gene products.1 Many attempts at therapy have focused on how to increase SMN levels in SMA patients, with the hopes of reversing or slowing the The […]

  • Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

    Major challenges in the clinical care of those with spinal muscular atrophy (SMA) are determining patients’ clinical stages, identifying exactly how the disease is progressing, and distinguishing SMA from other, muscular disorders. To help overcome these difficulties, researchers are actively seeking improved […]

  • Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

    At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients has been collected in recent years. However, given […]

  • How to Administer Nusinersen in Adolescents 

    Nusinersen is the first treatment available for children with spinal muscular atrophy (SMA). Before its approval in 2016, the U.S. Food and Drug Administration had not approved the use of any drug for SMA treatment.1 While the introduction of this new drug marks significant progress in SMA therapy and provides new […]

  • Nusinersen in Spinal Muscular Atrophy: What is Still Unclear

    In 2016, nusinersen, or Spinraza, became the first drug for spinal muscular atrophy (SMA) ever approved by the U.S. Food and Drug Administration.1 The drug acts to combat low survival motor neuron (SMN) protein in the central nervous system by correcting the splicing of SMN2 mRNA.2 Though the introduction of […]

  • What is Meaningful Change in Spinal Muscular Atrophy?

    A tool that is commonly used to evaluate motor function in spinal muscular atrophy (SMA) patients is the Hammersmith Functional Motor Scale (HFMSE).1 Given the extensive use of this tool, particularly for clinical trial research that aims to identify and develop therapeutic interventions to help those with SMA,2–5 […]

  • Spinal Muscular Atrophy and the Role of MicroRNA

    Mutations in the survival motor neuron 1 gene (SMN1), which result in reduced expression and lower levels of the full-length SMN protein, are responsible for spinal muscular atrophy (SMA).1 Given the role that microRNAs (miRNAs) play in gene expression, it is perhaps not surprising that they are implicated in this […]