In C. elegans, the TGFbeta-like type II receptor daf-4 is required for two distinct signaling pathways. In association with the type I receptor daf-1, it functions in the dauer pathway. In addition, it is also required for body size determination and male tail patterning, roles which do not require daf-1. In an effort to determine how two different signals are transmitted through daf-4, we look...

Bone morphogenetic protein (BMP) pathways control an array of developmental and homeostatic events, and must themselves be exquisitely controlled. Here, we identify Caenorhabditis elegans SMA-10 as a positive extracellular regulator of BMP-like receptor signaling. SMA-10 acts genetically in a BMP-like (Sma/Mab) pathway between the ligand DBL-1 and its receptors SMA-6 and DAF-4. We cloned sma-10...

AIM Levels of ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) are robustly increased in spinal muscular atrophy (SMA) patient fibroblasts and mouse models. We therefore wanted to establish whether changes in UCHL1 contribute directly to disease pathogenesis, and to assess whether pharmacological inhibition of UCHL1 represents a viable therapeutic option for SMA. METHODS SMA mice and control ...

To analyze the organization of corticostriatal motor inputs, we examined the neuronal responses in the putamen (Put) to stimulation in the primary motor cortex (MI) and the supplementary motor area (SMA). Stimulating electrodes were chronically implanted in the distal and proximal parts of the forelimb representation of the MI and in the forelimb representation of the SMA in Japanese monkeys (M...

OBJECTIVE Spinal muscular atrophy (SMA) is common. The prevalence of SMA in southern Chinese is 1 in 53,000. The clinical course is variable. The traditional classification of SMA includes age of onset, age of death, achievement of motor milestones, and ambulatory status as criteria. There was a lack of inclusion of the best lifetime functional status of any child with SMA. With the advances in...

Spinal muscular atrophy (SMA) is caused by reduced levels of survival motor neuron (SMN) protein. Previously, cultured SMA motor neurons showed reduced growth cone size and axonal length. Furthermore, reduction of SMN in zebrafish resulted in truncation followed by branching of motor neuron axons. In this study, motor neurons labeled with green fluorescent protein (GFP) were examined in SMA mic...

To cite: Vergani F, Lacerda L, Martino J, et al. J Neurol Neurosurg Psychiatry 2014;85: 1377–1385. ABSTRACT Introduction The supplementary motor area (SMA) is frequently involved by brain tumours (particularly WHO grade II gliomas). Surgery in this area can be followed by the ‘SMA syndrome’, characterised by contralateral akinesia and mutism. Knowledge of the connections of the SMA can provide ...

BACKGROUND Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates of prevalence are needed to characterize the burden of SMA and to understand trends in prevalence by disease type as new treatments become available. The reported estimates of SM...

To clarify the functional role of human pre-supplementary motor area (pre-SMA) in 'cognitive' motor control as compared with other non-primary motor cortices (SMA-proper and lateral premotor areas) and prefrontal area, we recorded epicortical field potentials by using subdural electrodes in five epileptic patients during presurgical evaluation, whose pre-SMA, SMA-proper, prefrontal and lateral ...

The outcome of endovascular treatment in acute superior mesenteric artery (SMA) thromboembolic occlusion is variable at best. We describe three patients who underwent urgent endovascular manual aspiration thrombectomy of the SMA, illustrating the good, the bad, and the ugly. The good: a 63-year-old male patient was admitted to our hospital for acute abdominal pain. Contrast-enhanced multidetect...