Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia

No abstract availabl

Genetic issues in the diagnosis of dystonias

Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive. Primary Torsion Dystonias (PTDs), in which dystonia is the only clinical sign, can be inherited in a monogenic fashion, and many genes and loci have been identified for autosomal dominant (DYT1/TOR1A; DYT6/THAP1; DYT4/TUBB4a; DYT7; DYT13; DYT21; DYT23/CIZ1; DYT24/ANO3; DYT25/GNAL) and recessive (DYT2; DYT17) forms. However most sporadic cases, especially those with late-onset, are likely multifactorial, with genetic and environmental factors interplaying to reach a threshold of disease. At present, genetic counseling of dystonia patients remains a difficult task. Recently non-motor clinical findings in dystonias, new highlights in the pathophysiology of the disease, and the availability of high-throughput genome-wide techniques are proving useful tools to better understand the complexity of PTD genetics. We briefly review the genetic basis of the most common forms of hereditary PTDs, and discuss relevant issues related to molecular diagnosis and genetic counseling

Relevant results from the NA48 experiment

We report relevant results from NA48 experiment at CERN SPS. NA48 was proposed in 1990 \cite{proposal} to study direct CP violation in $K^0\to\pi\pi$ to a level of accuracy sufficient to resolve the inconclusive status left by the previous measurements performed by NA31 \cite{NA31} and E731 \cite{E731}. In 2002 NA48 published the final result \cite{NA48epsoeps}. Small modification to the experimental setup have allowed NA48 to go forward with an extensive investigation of $K^0$ rare decays and hyperon decays. Some results are already available and reported here together with the final CP violation measurement.Comment: 3 pages, 1 eps figure, XXIII Physics in collisio

KIC 9821622: An interesting lithium-rich giant in the Kepler field

We report the discovery of a new exceptional young lithium-rich giant, KIC 9821622, in the \textit{Kepler} field that exhibits an unusually large enhancement of $\alpha$, Fe-peak, and \textit{r}-process elements. From high-resolution spectra obtained with GRACES at Gemini North, we derived fundamental parameters and detailed chemical abundances of 23 elements from equivalent widths and synthesis analysis. By combining atmospheric stellar parameters with available asteroseismic data, we obtained the stellar mass, radius, and age. The data analysis reveals that KIC 9821622 is a Li-rich (A(Li)$_{NLTE}$ = 1.80 $\pm$ 0.2) intermediate-mass giant star ($M$ = 1.64 $M_{\odot}$) located at the red giant branch near the luminosity bump. We find unexpectedly elevated abundances of Fe-peak and \textit{r}-process elements. In addition, as previously reported, we find that this is a young star (2.37 Gyr) with unusually high abundances of $\alpha$-elements ([$\alpha$/Fe] = 0.31). The evolutionary status of KIC 9821622 suggests that its Li-rich nature is the result of internal fresh Li that is synthesized through the Cameron-Fowler mechanism near the luminosity bump. However, its peculiar enhancement of $\alpha$, Fe-peak, and \textit{r}-process elements opens the possibility of external contamination by material enriched by a supernova explosion. Although it is less likely, planet accretion cannot be ruled out.Comment: Letter, 6 pages, 3 figures, Accepted for publication in A&A. - Some language editing include

Signatures of rocky planet engulfment in HAT-P-4. Implications for chemical tagging studies

Aims. To explore the possible chemical signature of planet formation in the binary system HAT-P-4, by studying abundance vs condensation temperature Tc trends. The star HAT-P-4 hosts a planet detected by transits while its stellar companion does not have any detected planet. We also study the Lithium content, which could shed light on the problem of Li depletion in exoplanet host stars. Conclusions. The exoplanet host star HAT-P-4 is found to be ~0.1 dex more metal rich than its companion, which is one of the highest differences in metallicity observed in similar systems. This could have important implications for chemical tagging studies, disentangling groups of stars with a common origin. We rule out a possible peculiar composition for each star as lambda Boo, delta Scuti or a Blue Straggler. The star HAT-P-4 is enhanced in refractory elements relative to volatile when compared to its stellar companion. Notably, the Lithium abundance in HAT-P-4 is greater than in its companion by ~0.3 dex, which is contrary to the model that explains the Lithium depletion by the presence of planets. We propose a scenario where, at the time of planet formation, the star HAT-P-4 locked the inner refractory material in planetesimals and rocky planets, and formed the outer gas giant planet at a greater distance. The refractories were then accreted onto the star, possibly due to the migration of the giant planet. This explains the higher metallicity, the higher Lithium content, and the negative Tc trend detected. A similar scenario was recently proposed for the solar twin star HIP 68468, which is in some aspects similar to HAT-P-4. We estimate a mass of at least Mrock ~ 10 Mearth locked in refractory material in order to reproduce the observed Tc trends and metallicity.Comment: 5 pages, 6 figures, A&A Letters accepte

The effects of a comptonizing corona on the appearance of the reflection components in accreting black hole spectra

We discuss the effects of a comptonizing corona on the appearance of the reflection components, and in particular of the reflection hump, in the X-rays spectra of accreting black holes. Indeed, in the framework of a thermal corona model, we expect that part (or even all, depending on the coronal covering factor) of the reflection features should cross the hot plasma, and thus suffer Compton scattering, before being observed. We have studied in detail the dependence of these effects on the physical (i.e. temperature and optical depth) and geometrical (i.e. inclination angle) parameters of the corona, concentrating on the slab geometry . Due to the smoothing and shifting towards high energies of the comptonized reflection hump, the main effects on the emerging spectra appear above 100 keV. We have also investigated the importance of such effects on the interpretation of the results obtained with the standard fitting procedures. We found that fitting Comptonization models, taking into account comptonized reflection, by the usual cut-off power law + uncomptonized reflection model, may lead to an underestimation of the reflection normalization and an overestimation of the high energy cut-off. We discuss and illustrate the importance of these effects by analysing recent observational results as those of the galaxy NGC 4258. We also find that the comptonizing corona can produce and/or emphasize correlations between the reflection features characteristics (like the iron line equivalent width or the covering fraction) and the X-ray spectral index similar to those recently reported in the literature. We also underline the importance of these effects when dealing with accurate spectral fitting of the X-ray background.Comment: 11 pages, 14 figures accepted for publication in MNRAS. Version printable on US 8.5x11 pape

FROM 2D TO 3D SUPERVISED SEGMENTATION AND CLASSIFICATION FOR CULTURAL HERITAGE APPLICATIONS

The digital management of architectural heritage information is still a complex problem, as a heritage object requires an integrated representation of various types of information in order to develop appropriate restoration or conservation strategies. Currently, there is extensive research focused on automatic procedures of segmentation and classification of 3D point clouds or meshes, which can accelerate the study of a monument and integrate it with heterogeneous information and attributes, useful to characterize and describe the surveyed object. The aim of this study is to propose an optimal, repeatable and reliable procedure to manage various types of 3D surveying data and associate them with heterogeneous information and attributes to characterize and describe the surveyed object. In particular, this paper presents an approach for classifying 3D heritage models, starting from the segmentation of their textures based on supervised machine learning methods. Experimental results run on three different case studies demonstrate that the proposed approach is effective and with many further potentials