The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN (SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal muscular atrophy (SMA), an autosomal recessive disorder that results in loss of motor neurons. SMN is found in the cytoplasm and nucleus. The nuclear form is located in structures termed gems. Using a panel of anti-SMN antibodies, we demonstrate that the SMN protein is expressed from both the SMN(T) and SMN(C) genes. Western blot analysis of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, particularly in type I (most severe) patients. Immunocytochemical analysis of SMA patient fibroblasts indicates a significant reduction in the number of gems in type I SMA patients and a correlation of the number of gems with clinical severity. This correlation to phenotype using primary fibroblasts may serve as a useful diagnostic tool in an easily accessible tissue. SMN is expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. In SMA patients, the SMN level was moderately reduced in muscle and lymphoblasts. In contrast, SMN was expressed at high levels in spinal cord from normals and non-SMA disease controls, but was reduced 100-fold in spinal cord from type I patients. The marked reduction of SMN in type I SMA spinal cords is consistent with the features of this motor neuron disease. We suggest that disruption of SMN(T) in type I patients results in loss of SMN from motor neurons, resulting in the degeneration of these neurons.

Movement deficits associated with expressing specific emotions and an association with quality-of-life measures were identified in patients with long-term facial nerve paralysis who saw themselves as not effective at facial expression of emotions. To improve management of emotional expression in patients with facial nerve paralysis, a broader approach is recommended, linking the practitioner's treatment goals with patient-driven outcome goals.

Recent interest in ‘creative’ work practices has been brought about by organizational restructuring and the emergence of the creative industries as an economic power. Drawing on research with musicians in the North East of England, this article explores musicians’ understandings of their working lives within the new entrepreneurial agenda. Musicians are shown to be enterprising in pursuing a musical calling in a difficult market and of particular interest is the extent to which they see themselves as entrepreneurs, whether they equate being self-employed with being entrepreneurial, and what relevance contemporary notions of individual enterprise have for those whose working lives are embedded in the essentially co-operative music world. Networking is regarded as an essential entrepreneurial skill and the concept of ‘active networking’ is introduced to help investigate what can be learnt about musicians’ understanding of entrepreneurship through applying this model.

For clinical grading of voluntary movement, there is good correlation between ratings given on the Sydney and Sunnybrook systems, and within each system there is good reliability. The assessment of synkinesis was far less reliable within, and less related between, systems. Although the reliability of the House Brackmann system was found to be high, examination of individual grades revealed some wide variation between trained observers.

GlaxoSmithKline.