Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities

2021 ◽  
Author(s):  
Laurent Servais ◽  
Giovanni Baranello ◽  
Mariacristina Scoto ◽  
Aurore Daron ◽  
Maryam Oskoui
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Clinical Development ◽  
Therapeutic Interventions ◽  
Early Clinical Development

Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development

2010 ◽  
Vol 2 (9) ◽  
pp. 1429-1440 ◽  
Author(s):  
Rebecca M Pruss ◽  
Marc Giraudon-Paoli ◽  
Svetlana Morozova ◽  
Patrick Berna ◽  
Jean-Louis Abitbol ◽  
...  
Keyword(s):  
Drug Discovery ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Clinical Development ◽  
Drug Discovery And Development ◽  
Future Challenges ◽  
Screening Approaches

scholarly journals Hereditary Canine Spinal Muscular Atrophy: An Animal Model of Motor Neuron Disease

1991 ◽  
Vol 18 (S3) ◽  
pp. 432-434 ◽  
Author(s):  
Linda C. Cork
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Motor Neurons ◽  
Autosomal Dominant ◽  
Muscular Atrophy ◽  
Canine Model ◽  
Therapeutic Interventions ◽  
Motor Neuron Diseases ◽  
Human Motor

ABSTRACT:Motor neuron diseases selectively produce degeneration and death of motor neurons; the pathogenesis of these disorders and the specificity for this population of neurons are unknown. Hereditary Canine Spinal Muscular Atrophy produces a lower motor neuron disease which is clinically and pathologically similar to human motor neuron disease: motor neurons dysfunction and degenerate. The canine model provides an opportunity to investigate early stages of disease when there are viable motor neurons still present and might be responsive to a variety of therapeutic interventions. The canine disease, like the human disease, is inherited as an autosomal dominant. The extensive canine pedigree of more than 200 characterized individuals permits genetic analysis using syntenic linkage techniques which may identify a marker for the canine trait and provide insights into homologous regions for study in human kindreds.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

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