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Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

Ongoing research on the cellular pathways highlighted in this Review is predicted to open the door to new therapeutic interventions to slow disease progression in ALS.
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Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments

It is demonstrated that phosphorylation of NFH side arms is a mechanism for regulating transport of neurofilaments through axons and that application of roscovitine, an inhibitor of theNFH side arm kinase Cdk5/p35, accelerates neurofilament transport.
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Direct evidence for axonal transport defects in a novel mouse model of mutant spastin‐induced hereditary spastic paraplegia (HSP) and human HSP patients

Axonal transport is analysed in a novel mouse model of spastin‐induced HSP that involves a pathogenic splice site mutation, which leads to a loss of spasts protein, and results strongly support a direct role for defective axonal transport in the pathogenesis of HSP.
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Role of axonal transport in neurodegenerative diseases.

The role of axonal transport in neurodegenerative disease is reviewed and disruption of axon transport is an early and perhaps causative event in many of these diseases.
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Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.

Time-lapse microscopy is used to monitor for the first time the effect of mutant S OD1 on fast axonal transport (FAT) of bona fide cargoes in living neurons and finds that mutant SOD1 damages transport of both mitochondria and MBOs, and that the precise details of this damage are cargo-specific.
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Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

A single injection of self-complementary adeno-associated virus serotype 9 expressing green fluorescent protein or of a codon-optimized version of the survival motor neuron protein into the facial vein 1 day after birth in mice carrying a defective Survival motor neuron gene led to widespread gene transfer and resulted in a substantial extension of life span in these animals.
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The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

The data identify C9orf72 as a novel Rab1a effector in the regulation of autophagy and indicate that C 9orf72 haploinsufficiency and associated reductions in Autophagy might be the underlying cause of C9ALS/FTD‐associated p62 pathology.
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Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

In a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS, indicating the likely pathogenicity of the reported gene alterations.
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Mitochondrial Function and Actin Regulate Dynamin-Related Protein 1-Dependent Mitochondrial Fission

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Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

It is demonstrated that aberrant neurofilaments assembly and transport can induce neurological disease, and further implicate defective neurofilament metabolism in the pathogenesis of human neurodegenerative diseases.
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