Objectives In amyotrophic lateral sclerosis (ALS) both upper (UMNs) and lower motor neurons (LMNs) are involved in the process of neurodegeneration, accounting for great disease heterogeneity. We evaluated associations burden UMN impairment, assessed through Penn Upper Motor Neuron Score (PUMNS), with demographic clinical features ALS patients to define independent role involvement generating h...

Central nervous system GABAergic and glycinergic synaptic activity switches from postsynaptic excitation to inhibition during the stage when motor neuron numbers are being reduced, and when synaptic connections are being established onto and by motor neurons. In mice this occurs between embryonic (E) day 13 and birth (postnatal day 0). Our previous work on mice lacking glycinergic transmission ...

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually prem...

genes that control motor neuron induction, subtype identity, and target specificity. Mice were mutagenized with ENU and outcrossed to an HB9-GFP transgenic reporter line that expresses GFP in spinal motor neurons and their axons. Litters were analyzed by fluorescence microscopy for recessive mutations that affect motor neuron induction and motor axon projection pattern. We have screened 137 F1 ...

genes that control motor neuron induction, subtype identity, and target specificity. Mice were mutagenized with ENU and outcrossed to an HB9-GFP transgenic reporter line that expresses GFP in spinal motor neurons and their axons. Litters were analyzed by fluorescence microscopy for recessive mutations that affect motor neuron induction and motor axon projection pattern. We have screened 137 F1 ...

Spinal muscular atrophy (SMA) remains one of the most common and lethal autosomal recessive diseases. Homozygous deletion of survival of motor neuron 1 (SMN1) and resulting SMN protein deficiency manifests predominantly with motor neuron degeneration; however, a wealth of emerging data supports a broader influence of SMN deficiency in disease pathogenesis. In this issue of the JCI, Kariya and c...