Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
April-2018 Volume 15 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
April-2018 Volume 15 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School

  • Authors:
    • Ioannis N. Mammas
    • Demetrios A. Spandidos
  • View Affiliations / Copyright

    Affiliations: Department of Clinical Virology, School of Medicine, University of Crete, 71003 Heraklion, Crete, Greece
    Copyright: © Mammas et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3673-3679
    |
    Published online on: February 22, 2018
       https://doi.org/10.3892/etm.2018.5884
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

According to Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School and Director of the Spinal Muscular Atrophy (SMA) Program at Boston Children's Hospital in Boston (MA, USA), the diagnosis of SMA type I is clinical and is based on detailed general physical and neurological examinations. SMA type I remains the most common genetic disease resulting in death in infancy and is really devastating for the child, the parents, as well as the medical professionals with the privilege of caring for patients with SMA and their parents. The proposed management options include: i) no respiratory support; ii) non‑invasive ventilation; and iii) tracheotomy with mechanical ventilation. Deciding, which option is the best, is indeed a very personal decision. The optimal clinical care should be extremely mindful of parents' wishes and management goals with regard to the quality of life. Since the end of 2016 in the USA, and recently in Europe, there exists the possibility of accessing a novel treatment drug for SMA, namely Nusinersen. This antisense oligonucleotide is administered intrathecally and increases the production of the fully functional SMN protein, thus improving motor function, the quality of life and survival. Among the ongoing clinical trials, oral treatment with RG7916, a small molecule SMN2 splicing modifier, appears to be really promising. Gene therapy using viral vectors is expected to offer an ‘one and done’ therapy and possibly a cure, if administered early in life, before any symptoms appear. It is really interesting that viruses, which at the moment are the cause of death of children with SMA, if genetically modified, may be used for their treatment.
View Figures

Figure 1

View References

1 

Darras BT: Spinal muscular atrophies. Pediatr Clin North Am. 62:743–766. 2015. View Article : Google Scholar : PubMed/NCBI

2 

Darras BT, Monani UR and De Vivo DC: Genetic disorders affecting the motor neuron: Spinal muscular atrophySwaiman's Pediatric Neurology: Principles and Practice. Swaiman KF, Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, Pearl PL and Shevell MI: Elsevier; pp. 1057–1064. 2017, View Article : Google Scholar

3 

Roper H and Quinlivan R: Workshop Participants: Implementation of ‘the consensus statement for the standard of care in spinal muscular atrophy’ when applied to infants with severe type 1 SMA in the UK. Arch Dis Child. 95:845–849. 2010. View Article : Google Scholar : PubMed/NCBI

4 

Ogino S and Wilson RB: Spinal muscular atrophy: Molecular genetics and diagnostics. Expert Rev Mol Diagn. 4:15–29. 2004. View Article : Google Scholar : PubMed/NCBI

5 

Faravelli I, Nizzardo M, Comi GP and Corti S: Spinal muscular atrophy - recent therapeutic advances for an old challenge. Nat Rev Neurol. 11:351–359. 2015. View Article : Google Scholar : PubMed/NCBI

6 

Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH and Talbot K; UK SMA Research Consortium, : Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech. 10:943–954. 2017. View Article : Google Scholar : PubMed/NCBI

7 

LoMauro A, Aliverti A, Mastella C, Arnoldi MT, Banfi P and Baranello G: Spontaneous breathing pattern as respiratory functional outcome in children with spinal muscular atrophy (SMA). PLoS One. 11:e01658182016. View Article : Google Scholar : PubMed/NCBI

8 

Lin CW, Kalb SJ and Yeh WS: Delay in diagnosis of spinal muscular atrophy: A systematic literature review. Pediatr Neurol. 53:293–300. 2015. View Article : Google Scholar : PubMed/NCBI

9 

Kekou K, Sofocleous C, Konstantinidis G, Fryssira H, Mavrou A, Kitsiou S and Kanavakis E: SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion. Mol Cell Probes. 29:71–73. 2015. View Article : Google Scholar : PubMed/NCBI

10 

Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, Jones CC, Cook SF and Lochmüller H: A multi-source approach to determine SMA incidence and research ready population. J Neurol. 264:1465–1473. 2017. View Article : Google Scholar : PubMed/NCBI

11 

Boardman FK, Young PJ and Griffiths FE: Newborn screening for spinal muscular atrophy: The views of affected families and adults. Am J Med Genet A. 173:1546–1561. 2017. View Article : Google Scholar : PubMed/NCBI

12 

Phan HC, Taylor JL, Hannon H and Howell R: Newborn screening for spinal muscular atrophy: Anticipating an imminent need. Semin Perinatol. 39:217–229. 2015. View Article : Google Scholar : PubMed/NCBI

13 

Gregoretti C, Ottonello G, Chiarini Testa MB, Mastella C, Ravà L, Bignamini E, Veljkovic A and Cutrera R: Survival of patients with spinal muscular atrophy type 1. Pediatrics. 131:e1509–e1514. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Panitch HB: Counterpoint: Is noninvasive ventilation always the most appropriate manner of long-term ventilation for infants with spinal muscular atrophy type 1? No. Chest. 151:965–968. 2017. View Article : Google Scholar : PubMed/NCBI

15 

Bach JR Jr: Point: Is noninvasive ventilation always the most appropriate manner of long-term ventilation for infants with spinal muscular atrophy type 1? Yes, almost always. Chest. 151:962–965. 2017. View Article : Google Scholar : PubMed/NCBI

16 

Scoto M, Finkel RS, Mercuri E and Muntoni F: Therapeutic approaches for spinal muscular atrophy (SMA). Gene Ther. 24:514–519. 2017. View Article : Google Scholar : PubMed/NCBI

17 

Singh P, Liew WK and Darras BT: Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 25:682–688. 2013.PubMed/NCBI

18 

Tizzano EF and Finkel RS: Spinal muscular atrophy: A changing phenotype beyond the clinical trials. Neuromuscul Disord. 27:883–889. 2017. View Article : Google Scholar : PubMed/NCBI

19 

Finkel RS, Bishop KM and Nelson RM: Spinal muscular atrophy type I: Is it ethical to standardize supportive care intervention in clinical trials? J Child Neurol. 32:155–160. 2017. View Article : Google Scholar : PubMed/NCBI

20 

Murrell DV, Lotze TE, Farber HJ, Crawford CA and Wiemann CM: The experience of families with children with spinal muscular atrophy type I across health care systems. J Child Neurol. 32:917–923. 2017. View Article : Google Scholar : PubMed/NCBI

21 

Markowitz JA, Singh P and Darras BT: Spinal muscular atrophy: A clinical and research update. Pediatr Neurol. 46:1–12. 2012. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Mammas IN and Spandidos DA: Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School. Exp Ther Med 15: 3673-3679, 2018.
APA
Mammas, I.N., & Spandidos, D.A. (2018). Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School. Experimental and Therapeutic Medicine, 15, 3673-3679. https://doi.org/10.3892/etm.2018.5884
MLA
Mammas, I. N., Spandidos, D. A."Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School". Experimental and Therapeutic Medicine 15.4 (2018): 3673-3679.
Chicago
Mammas, I. N., Spandidos, D. A."Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School". Experimental and Therapeutic Medicine 15, no. 4 (2018): 3673-3679. https://doi.org/10.3892/etm.2018.5884
Copy and paste a formatted citation
x
Spandidos Publications style
Mammas IN and Spandidos DA: Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School. Exp Ther Med 15: 3673-3679, 2018.
APA
Mammas, I.N., & Spandidos, D.A. (2018). Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School. Experimental and Therapeutic Medicine, 15, 3673-3679. https://doi.org/10.3892/etm.2018.5884
MLA
Mammas, I. N., Spandidos, D. A."Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School". Experimental and Therapeutic Medicine 15.4 (2018): 3673-3679.
Chicago
Mammas, I. N., Spandidos, D. A."Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School". Experimental and Therapeutic Medicine 15, no. 4 (2018): 3673-3679. https://doi.org/10.3892/etm.2018.5884
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team