By Charlotte J Sumner, Sergey Paushkin, Chien-Ping Ko
Spinal Muscular Atrophy: disorder Mechanisms and Therapy offers the most recent details on a situation that's characterised by way of motoneuron loss and muscle atrophy, and is the best genetic reason behind youngster mortality. because the id of the gene chargeable for SMA in 1995, there were very important advances within the uncomplicated figuring out of sickness mechanisms, and in healing improvement.
This booklet presents a complete accounting of contemporary advances in uncomplicated and scientific learn that covers SMA scientific positive aspects and criteria of care, multifaceted facets of SMN protein services and SMA illness pathology, a variety of animal versions, and biomarkers, in addition to present healing development.
This identify is perfect for graduate students/postdocs and valuable investigators who're already within the SMA box and want to maintain up to date on fresh findings and ways, and if you are new to, or want to subscribe to, the sector. Likewise, clients will locate a superb resource of analyzing for biotech/pharma scientists, scientific researchers, and practitioners, regulators, and sufferers and their advocacy companies. in addition, this ebook is a convenient reference for researchers and clinicians who probably want to observe the learn thoughts and healing techniques in SMA to different infrequent diseases.
- Provides complete, up to date reports via prime investigators on different themes of SMA, together with scientific good points and sufferer care, SMN genetics and protein services, animal types, affliction pathology and mechanisms, biomarkers, present healing improvement, and the position of non-profit organisations in healing development
- Written to bridge a number of disciplines and advertise greater communications between uncomplicated scientists, medical researchers, and wellbeing and fitness care services at the newest advancements in SMA
- Includes notable questions and views for destiny investigations and key references for extra distinct study
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Additional info for Spinal Muscular Atrophy. Disease Mechanisms and Therapy
Sample text
Nat Genet. 1997;16(3):265–269. Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997;6(8):1205–1214. Wirth B, Schmidt T, Hahnen E, et al. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet. 1997;61(5):1102–1111. Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.
Mitsumoto et al. (1982) 1 I Birth 10 d Severe depletion of MNs and gliosis in SC. Neuronal degeneration in Clarke’s nucleus. Kuzuhara and Chou (1981) 4 I Neonate to 3 m 3–9 m Severe loss of large MNs with astrocytosis in VH. Empty cell beds. Occasional chromatolytic neurons. Preservation of neurons in phrenic nucleus. Steiman et al. (1980) 2 I In utero 5 m/5 w MN loss. Ito et al. (2011) I. 1 Summary of SMA Autopsy Studies—cont’d Authors Cases SMA Type Age of Onset Age of Death Pathological Findings Ghatak (1978) 2 I 4/2 m 5/8 m Loss of large MNs.
2016. [in press]. Singh P, Liew WK, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013;25(6): 682–688. I. J. Pérez-García1, L. J. F. 1); however, recent studies have also examined fetuses with genetically confirmed, severe SMA. These studies have revealed that at least some aspects of SMA pathology begin prenatally coinciding with critical phases of rapid neuromuscular development. Given this intersection, we begin this chapter with a brief review of normal neuromuscular development The pathology of spinal muscular atrophy (SMA) has been studied since the original description of the disease by Dr.