2,039 research outputs found
Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature
TBK1 mutations are a recently discovered cause of disorders in the frontotemporal dementia (FTD)-amyotrophic lateral sclerosis (ALS) spectrum. We describe a novel L683* mutation, predicted to cause a truncated protein and therefore be pathogenic, in a patient presenting with nonfluent variant primary progressive aphasia (PPA) at the age of 65. Her disease progressed over the following years, leading to her being mute and wheelchair bound seven years into her illness. Brain imaging showed asymmetrical left-sided predominant atrophy affecting the frontal, insular and temporal cortices as well as the striatum in particular. Review of the literature found 60 different nonsense, frameshift, deletion or splice site mutations, including the newly described mutation, with data on clinical diagnosis available in 110 people: 58% of the cases presented with an ALS syndrome, 16% with an FTD-ALS overlap, 19% with a cognitive presentation (including behavioural variant FTD (bvFTD) and PPA) and 4% with atypical parkinsonism. Age at onset (AAO) data was available in 75 people: mean (standard deviation) AAO was 57.5 (10.3) in those with ALS, which was significantly younger than those with a cognitive presentation (AAO = 65.1 (10.5), p = 0.008), or atypical parkinsonism (AAO = 68.3 (8.7), p = 0.021), with a trend compared with the FTD-ALS group (AAO = 61.9 (7.0), p=0.065); there was no significant difference in AAO between the other groups. In conclusion, clinical syndromes across the whole FTD-ALS-atypical parkinsonism spectrum have been reported in conjunction with mutations in TBK1. It is therefore important to include TBK1 on future gene panels for each of these disorders, and to suspect such mutations particularly when there are multiple different phenotypes in the same family
Spin-Correlation Coefficients and Phase-Shift Analysis for p+He Elastic Scattering
Angular Distributions for the target spin-dependent observables A,
A, and A have been measured using polarized proton beams at
several energies between 2 and 6 MeV and a spin-exchange optical pumping
polarized He target. These measurements have been included in a global
phase-shift analysis following that of George and Knutson, who reported two
best-fit phase-shift solutions to the previous global p+He elastic
scattering database below 12 MeV. These new measurements, along with
measurements of cross-section and beam-analyzing power made over a similar
energy range by Fisher \textit{et al.}, allowed a single, unique solution to be
obtained. The new measurements and phase-shifts are compared with theoretical
calculations using realistic nucleon-nucleon potential models.Comment: Submitted to Phys. Rev.
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Non-stoichiometric oxide and metal interfaces and reactions
We have employed a combination of experimental surface science techniques and density functional calculations to study the reduction of TiO2(110) surfaces through the doping with submonolayer transition metals. We concentrate on the role of Ti adatoms in self doping of rutile and contrast the behaviour to that of Cr. DFT+U calculations enable identification of probable adsorption structures and their spectroscopic characteristics. Adsorption of both metals leads to a broken symmetry and an asymmetric charge transfer localised around the defect site of a mixed localised/delocalised character. Charge transfer creates defect states with Ti 3d character in the band gap at similar to 1-eV binding energy. Cr adsorption, however, leads to a very large shift in the valence-band edge to higher binding energy and the creation of Cr 3d states at 2.8-eV binding energy. Low-temperature oxidation lifts the Ti-derived band-gap states and modifies the intensity of the Cr features, indicative of a change of oxidation state from Cr3+ to Cr4+. Higher temperature processing leads to a loss of Cr from the surface region, indicative of its substitution into the bulk
Understanding adhesion at as-deposited interfaces from ab initio thermodynamics of deposition growth: thin-film alumina on titanium carbide
We investigate the chemical composition and adhesion of chemical vapour
deposited thin-film alumina on TiC using and extending a recently proposed
nonequilibrium method of ab initio thermodynamics of deposition growth (AIT-DG)
[Rohrer J and Hyldgaard P 2010 Phys. Rev. B 82 045415]. A previous study of
this system [Rohrer J, Ruberto C and Hyldgaard P 2010 J. Phys.: Condens. Matter
22 015004] found that use of equilibrium thermodynamics leads to predictions of
a non-binding TiC/alumina interface, despite the industrial use as a
wear-resistant coating. This discrepancy between equilibrium theory and
experiment is resolved by the AIT-DG method which predicts interfaces with
strong adhesion. The AIT-DG method combines density functional theory
calculations, rate-equation modelling of the pressure evolution of the
deposition environment and thermochemical data. The AIT-DG method was
previously used to predict prevalent terminations of growing or as-deposited
surfaces of binary materials. Here we extent the method to predict surface and
interface compositions of growing or as-deposited thin films on a substrate and
find that inclusion of the nonequilibrium deposition environment has important
implications for the nature of buried interfaces.Comment: 8 pages, 6 figures, submitted to J. Phys.: Condens. Matte
Synthesis of nerve growth factor mRNA in cultures of developing mouse whisker pad, a peripheral target tissue of sensory trigeminal neurons.
Effects of magnetic field and disorder on electronic properties of Carbon Nanotubes
Electronic properties of metallic and semiconducting carbon nanotubes are
investigated in presence of magnetic field perpendicular to the CN-axis, and
disorder introduced through energy site randomness. The magnetic field field is
shown to induce a metal-insulator transition (MIT) in absence of disorder, and
surprisingly disorder does not affect significantly the MIT. These results may
find confirmation through tunneling experimentsComment: 4 pages, 6 figures. Phys. Rev. B (in press
Coarsening of graded local cohomology
Some criteria for graded local cohomology to commute with coarsening functors
are proven, and an example is given where graded local cohomology does not
commute with coarsening.Comment: minor correction
Spinflop transition in dopped antiferromagnets
In this paper we compute the mean field phase diagram of a doped
antiferromagnet, in a magnetic field and with anisotropic exchange. We show
that at zero temperature there is a metamagnetic transition from the
antiferromagnetic configuration along the z direction to a spin-flop state. In
the spin flop phase the system prefers a commensurate magnetic order, at low
doping, whereas at larger doping the incommensurate phase is favorable.
Contrary to the pure Heisenberg case, the spin flop region does not span an
infinite area in the ('Delta',h) plane, where 'Delta' is the exchange
anisotropy and h is the external magnetic field. We characterize the magnetic
and charge-transport properties of the spin-flop phase, computing the magnetic
susceptibility and the Drude weight. This latter quantity presents a sudden
variation as the spin-flop to paramagnet phase transition line is crossed. This
effect could be used as a possible source of large magneto-resistance. Our
findings may have some relevance for doped La_{2-\delta}Sr_{\delta}CuO_4 in a
magnetic field.Comment: 18 pages. accepted for Journal of Physics: Condensed Matte
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