Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival motor neuron 1 (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a ubiquitously expressed protein, leads to spinal motor neuron-specific degeneration in SMA patients remains unknown. In this study, we examined the role of S...

Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival motor neuron 1 (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a ubiquitously expressed protein, leads to spinal motor neuron-specific degeneration in SMA patients remains unknown. In this study, we examined the role of S...

Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a ubiquitously expressed protein, leads to spinal motor neuron-specific degeneration in individuals affected by SMA remains unknown. In this stu...

To explore the link between bioenergetics and motor neuron degeneration, we used a computational model in which detailed morphology and ion conductance are paired with intracellular ATP production and consumption. We found that reduced ATP availability increases the metabolic cost of a single action potential and disrupts K+/Na+ homeostasis, resulting in a chronic depolarization. The magnitude ...

Long-repetition-time spin-echo MR images showed symmetric hyperintensity of the intracerebral corticospinal tracts in two patients with clinical and neurophysiologic diagnosis of primary lateral sclerosis and amyotrophic lateral sclerosis. In both, axial low-flip-angle gradient-echo images of the cervical spine showed hyperintensity of the lateral columns of the cord consistent with antegrade d...

Running Title: Subgroups of ALS Baumann, F.1,2, Henderson, R.D.12, Ridall, P.G.34, Pettitt, A.N.4, Pamela A. McCombe1,2 1 Department of Neurology, Royal Brisbane & Women's Hospital, Queensland, Australia 2 University of Queensland Centre for Clinical Research, University of Queensland, Australia 3Department of Mathematics and Statistics, University of Lancaster, UK 4Discipline of Mathematical S...

Doxorubicin (Adriamycin) is an autofluorescent anthracycline antibiotic that acts as a DNA intercalator. Following intraneural microinjection of 3 micrograms of doxorubicin into rat tibial nerve, fluorescence microscopy indicated that it is transported retrogradely to anterior horn cell bodies. Subsequently, these motor neurons underwent a progressive subacute degeneration that occurred over a ...