Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Kishore Gollapalli1
Jeong-Ki Kim1
Umrao R.Monani2
1.Department of Neurology,Columbia University Medical Center,New York,NY,USA;Center for Motor Neuron Biology and Disease,Columbia University Medical Center,New York,NY,USA2.Department of Neurology,Columbia University Medical Center,New York,NY,USA;Department of Pathology &Cell Biology,Columbia University Medical Center,New York,NY,USA;Center for Motor Neuron Biology and Disease,Columbia University Medical Center,New York,NY,USA
摘要：Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein. Resulting from low levels of the Survival of Motor Neuron (SMN) protein, spinal muscular atrophy manifests mainly as a lower motor neuron disease. Why this is so and whether other cell types contribute to the classic spinal muscular atrophy phenotype continue to be the subject of intense investigation and are only now gaining appreciation. Yet, what is emerging is sometimes as puzzling as it is instructive, arguing for a careful re-examination of recent study outcomes, raising questions about established dogma in the field and making the case for a greater focus on milder spinal muscular atrophy models as tools to identify key mechanisms driving selective neuromuscular dysfunction in the disease. This review examines the evidence for novel molecular and cellular mechanisms that have recently been implicated in spinal muscular atrophy, highlights breakthroughs, points out caveats and poses questions that ought to serve as the basis of new investigations to better understand and treat this and other more common neurodegenerative disorders.
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论文发表日期：2021-10-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：7( 1978-1984 )
英文信息