Full Description
Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development.
This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development.
This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases.
Contents
Section I. Clinical Features and Diagnosis of SMA
1. Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure
2. Developmental Aspects and Pathological Findings in Spinal Muscular Atrophy
3. Standard of Care for Spinal Muscular Atrophy
4. Strategy for the Molecular Testing of Spinal Muscular Atrophy
Section II. Cellular and Molecular Mechanisms of the Disease
5. Transcriptional and Splicing Regulation of Spinal Muscular Atrophy Genes
6. The Function of Survival Motor Neuron Complex and Its Role in Spinal Muscular Atrophy Pathogenesis
7. RNA-Processing Dysfunction in Spinal Muscular Atrophy
8. Axonal and Neuromuscular Junction Pathology in Spinal Muscular Atrophy
9. Motor Circuit Dysfunction in Spinal Muscular Atrophy
10. Contributions of Different Cell Types to Spinal Muscular Atrophy Pathogenesis
11. Temporal Requirements for the Survival Motor Neuron Protein
12. Spinal Muscular Atrophy Disease Modifiers
Section III. Cell and Animal SMA Models
13. Cell Culture Models of Spinal Muscular Atrophy
14. Nonmammalian Animal Models of Spinal Muscular Atrophy
15. Mammalian Models of Spinal Muscular Atrophy
Section IV. Therapeutic Development
16. Spinal Muscular Atrophy Therapeutics Development
17. Small Molecule Approaches to Upregulate SMN Expression From the SMN2 Locus
18. Antisense-Oligonucleotide Modulation of SMN2 Pre-mRNA Splicing
19. Gene Transfer in Spinal Muscular Atrophy
20. Neuroprotection As a Therapeutic Approach for Spinal Muscular Atrophy
21. Skeletal Muscle in Spinal Muscular Atrophy As an Opportunity for Therapeutic Intervention
22. Addressing Cell Therapy for Spinal Muscular Atrophy: Open Issues and Future Perspectives
Section V. Clinical Research
23. Spinal Muscular Atrophy Motor Functional Scales and Measures of Pulmonary Function
24. Development and Testing of Biomarkers in Spinal Muscular Atrophy
25. Natural History of Spinal Muscular Atrophy
26. Spinal Muscular Atrophy Clinical Trials: Lessons Learned
