NDLI: Spinal Muscular Atrophy: Journeying From Bench to Bedside

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Novel mGluR5 Positive Allosteric Modulator Improves Functional Recovery, Attenuates Neurodegeneration, and Alters Microglial Polarization after Experimental Traumatic Brain Injury

NeuroRX : Volume 11, Issue 3, July 2014

NeuroRX : Volume 11, Issue 2, April 2014

NeuroRX : Volume 11, Issue 1, January 2014

Spinal Muscular Atrophy: Journeying From Bench to Bedside

Content Provider	Springer Nature Link
Author	Awano, Tomoyuki Kim, Jeong Ki Monani, Umrao R.
Copyright Year	2014
Abstract	Spinal muscular atrophy (SMA) is a frequently fatal neuromuscular disorder and the most common inherited cause of infant mortality. SMA results from reduced levels of the survival of motor neuron (SMN) protein. Although the disease was first described more than a century ago, a precise understanding of its genetics was not obtained until the SMA genes were cloned in 1995. This was followed in rapid succession by experiments that assigned a role to the SMN protein in the proper splicing of genes, novel animal models of the disease, and the eventual use of the models in the pre clinical development of rational therapies for SMA. These successes have led the scientific and clinical communities to the cusp of what are expected to be the first truly promising treatments for the human disorder. Yet, important questions remain, not the least of which is how SMN paucity triggers a predominantly neuromuscular phenotype. Here we review how our understanding of the disease has evolved since the SMA genes were identified. We begin with a brief description of the genetics of SMA and the proposed roles of the SMN protein. We follow with an examination of how the genetics of the disease was exploited to develop genetically faithful animal models, and highlight the insights gained from their analysis. We end with a discussion of ongoing debates, future challenges, and the most promising treatments to have emerged from our current knowledge of the disease.
Starting Page	786
Ending Page	795
Page Count	10
File Format	PDF
ISSN	19337213
Journal	NeuroRX
Volume Number	11
Issue Number	4
e-ISSN	18787479
Language	English
Publisher	Springer US
Publisher Date	2014-07-03
Publisher Institution	American Society for Experimental NeuroTherapeutics
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Spinal muscular atrophy survival motor neuron animal models motor neuron neurodegeneration Neurosciences Neurology Neurosurgery Neurobiology
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical) Pharmacology Pharmacology (medical)

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