Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism. We mapped the disorder, by linkage analysis, to 19q13.3, which contains the gene for ferritin light polypeptide (FTL). We found an adenine insertion at position 460-461 that is predicted to alter carboxy-terminal residues of the gene product. Brain histochemistry disclosed abnormal aggregates of ferritin and iron. Low serum ferritin levels also characterized patients. Ferritin, the main iron storage protein, is composed of 24 subunits of two types (heavy, H and light, L) which form a soluble, hollow sphere. Brain iron deposition increases normally with age, especially in the basal ganglia, and is a suspected causative factor in several neurodegenerative diseases in which it correlates with visible pathology, possibly by its involvement in toxic free-radical reactions. We found the same mutation in five apparently unrelated subjects with similar extrapyramidal symptoms. An abnormality in ferritin strongly indicates a primary function for iron in the pathogenesis of this new disease, for which we propose the name 'neuroferritinopathy'.     

Ocean circulation off east Antarctica affects ecosystem structure and sea-ice extent

Sea ice and oceanic boundaries have a dominant effect in structuring Antarctic marine ecosystems. Satellite imagery and historical data have identified the southern boundary of the Antarctic Circumpolar Current as a site of enhanced biological productivity. Meso-scale surveys off the Antarctic peninsula have related the abundances of Antarctic krill (Euphausia superba) and salps (Salpa thompsoni) to inter-annual variations in sea-ice extent. Here we have examined the ecosystem structure and oceanography spanning 3,500 km of the east Antarctic coastline, linking the scales of local surveys and global observations. Between 80 degrees and 150 degrees E there is a threefold variation in the extent of annual sea-ice cover, enabling us to examine the regional effects of sea ice and ocean circulation on biological productivity. Phytoplankton, primary productivity, Antarctic krill, whales and seabirds were concentrated where winter sea-ice extent is maximal, whereas salps were located where the sea-ice extent is minimal. We found enhanced biological activity south of the southern boundary of the Antarctic Circumpolar Current rather than in association with it. We propose that along this coastline ocean circulation determines both the sea-ice conditions and the level of biological productivity at all trophic levels.     

Modeling large reversible electric-field-induced strain in ferroelectric materials using 90° orientation switching

Reversible large electric-field-induced strain caused by reversible orientation switchings in BaTiO3 is modeled using the Landau's theory of phase transition.A triple well free energy function is constructed.Each of its minima is associated with one of the polarization orientations involved.Nonlinear constitutive laws accounting for reversible orientation switchings and electrostriction effects are obtained by using thermodynamic equilibrium conditions.Hysteretic dynamics of onedimensional structures is des...     

Probing Local Lattice Fluctautions in Cuprates and Manganites by High k—Resolution EXAFS

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