38
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: not found
      • Article: not found

      Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

      Read this article at

      ScienceOpenPublisher
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          <p class="first" id="d4796107e159">New England Journal of Medicine, 377(18), 1723-1732</p>

          Related collections

          Most cited references8

          • Record: found
          • Abstract: found
          • Article: not found

          Spinal muscular atrophy.

          Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation. Although no medical treatment is available, investigations have elucidated possible mechanisms underlying the molecular pathogenesis of the disease. Treatment strategies have been developed to use the unique genomic structure of the SMN1 gene region. Several candidate treatment agents have been identified and are in various stages of development. These and other advances in medical technology have changed the standard of care for patients with spinal muscular atrophy. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, therapeutic development, and evidence from clinical trials.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Optimality score for the neurologic examination of the infant at 12 and 18 months of age.

            The aim of this study was to develop and validate a simple, quantifiable, neurologic examination for infants between 2 and 24 months of age. The assessment consists of 37 items, divided into 3 sections. The first section includes 26 items assessing cranial nerve function, posture, movements, tone, and reflexes; the second section of 8 items documents the development of motor function, and the third section of 3 items evaluates the state of behavior. We applied this assessment to a cohort of ninety-two 12-month-old infants and forty-three 18-month-old infants, with no known perinatal risk factors. The proforma presented has been designed according to the frequency distribution of the neurologic findings in this cohort. Each item is scored individually, and a global score is the sum of all individual scores. The quantitative score enhances the value of this examination, both in clinical practice and in research settings.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: found
              Is Open Access

              Developmental milestones in type I spinal muscular atrophy

              Highlights • This paper reports patterns of natural progression in type I SMA. • The HINE is used to capture motor developmental milestones in SMA. • Motor developmental milestones are rarely acquired in type I SMA infants.
                Bookmark

                Author and article information

                Journal
                New England Journal of Medicine
                N Engl J Med
                New England Journal of Medicine (NEJM/MMS)
                0028-4793
                1533-4406
                November 02 2017
                November 02 2017
                : 377
                : 18
                : 1723-1732
                Article
                10.1056/NEJMoa1702752
                97fa2431-585d-40e6-b532-783f2a0f7e43
                © 2017
                History

                Comments

                Comment on this article