Spinal Muscular Atrophy (SMA) is an autosomal recessive disease, which is characterized by degeneration of the anterior horn cells of the spinal cord. SMA is classified into 3 clinical subtypes, type I (severe), type II (intermediate), and type III (mild). Two genes, SMN1 and NAIP, have been identified as SMA-related genes. The SMN1 gene is now recognized as a responsible gene for the disease b...

We used retrograde transneuronal transport of neurotropic viruses in Cebus monkeys to examine the organization of basal ganglia and cerebellar projections to two cortical areas on the medial wall of the hemisphere, the supplementary motor area (SMA) and the pre-SMA. We found that both of these cortical areas are the targets of disynaptic projections from the dentate nucleus of the cerebellum an...

Proximal spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. Traditionally, SMA has been described as a motor neuron disease; however, there is a growing body of evidence that arrhythmia and/or cardiomyopathy may present in SMA patients at an increased frequency. Here, we ask whether SMA model mice possess such phenotypes. We find SMA mice suffer from severe bradyarr...

Advances in preclinical SMA research have identified several candidate treatments. Early clinical trials evaluating these medications are underway or in the planning stage. At the NINDS Workshop on SMA in September 2004 in Washington DC, discussions started within the international SMA community to identify features that should be common to SMA clinical trials [1]. Having a set of design featur...

Survival of motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the pathogenesis mechanisms remain elusive. Restoring SMN in motor neurons only partially rescues SMA in mouse models, although it is thought to be therapeutically essential. Here, we address the relative importance of SMN restoration in the central nervous system (CNS) versus peripheral tissues in mouse models ...

138. 9. Guda N, Partington S, Vakil N. Symptomatic gastrooesophageal reflux, arousals and sleep quality in patients undergoing polysomnography for possible obstructive sleep apnoea. Aliment Pharm Ther. 2004;20:1153-1159.Indeed, results of a recent Internet survey showed thatGERD-related symptom severity was strongly associatedwith work impairment, and that nighttime GERD wasasso...

Activity patterns of projection neurons in the putamen were investigated in behaving monkeys. Stimulating electrodes were implanted chronically into the proximal (MI(proximal)) and distal (MI(distal)) forelimb regions of the primary motor cortex (MI) and the forelimb region of the supplementary motor area (SMA). Cortical inputs to putaminal neurons were identified by excitatory orthodromic resp...

Voluntary control of behavior implies the ability to select what action is performed. The supplementary motor area (SMA) and pre-SMA are widely considered to be of central importance for this ability because of their role in movement initiation and inhibition. To test this hypothesis, we recorded from neurons in SMA and pre-SMA of monkeys performing an arm countermanding task. Temporal analysis...

In Caenorhabditis elegans, the DBL-1 pathway, a BMP/TGFbeta-related signaling cascade, regulates body size and male tail development. We have cloned a new gene, sma-9, that encodes the C. elegans homolog of Schnurri, a large zinc finger transcription factor that regulates dpp target genes in Drosophila. Genetic interactions, the sma-9 loss-of-function phenotype, and the expression pattern sugge...

The supplementary motor area (SMA-proper) plays a key role in the preparation and execution of voluntary movements. Anatomically, SMA-proper is densely reciprocally connected to primary motor cortex (M1), but neuronal coordination within the SMA-M1 network and its modification by external perturbation are not well understood. Here we modulated the SMA-M1 network using MR-navigated multicoil ass...