| 1. |
- Theuns, J., et al.
(författare)
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Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
- 2014
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 1526-632X .- 0028-3878. ; 83:21, s. 13-1906
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. METHODS: C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. RESULTS: A pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low. CONCLUSIONS: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.
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| 2. |
- Ledoux, X., et al.
(författare)
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The Neutrons for Science Facility at SPIRAL-2
- 2014
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Ingår i: Nuclear Data Sheets. - : Elsevier BV. - 0090-3752 .- 1095-9904. ; 119, s. 353-356
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Tidskriftsartikel (refereegranskat)abstract
- The Neutrons For Science (NFS) facility is a component of SPIRAL-2 laboratory under construction at Caen (France). SPIRAL-2 is dedicated to the production of high intensity Radioactive Ions Beams (RIB). It is based on a high-power linear accelerator (LINAG) to accelerate deuterons beams in order to produce neutrons by breakup reactions on a C converter. These neutrons will induce fission in U-238 for production of radioactive isotopes. Additionally to the RIB production, the proton and deuteron beams delivered by the accelerator will be used in the NFS facility. NFS is composed of a pulsed neutron beam and irradiation stations for cross-section measurements and material studies. The beams delivered by the LINAG will allow producing intense neutron beams in the 100 keV-40 MeV energy range with either a continuous or quasi-mono-energetic spectrum. At NFS available average fluxes will be up to 2 orders of magnitude higher than those of other existing time-of-flight facilities in the 1 MeV - 40 MeV range. NFS will be a very powerful tool for fundamental physics and application related research in support of the transmutation of nuclear waste, design of future fission and fusion reactors, nuclear medicine or test and development of new detectors. The facility and its characteristics are described, and several examples of the first potential experiments are presented.
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| 3. |
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| 4. |
- Fynbo, J. P. U., et al.
(författare)
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Galaxy counterparts of metal-rich damped Ly alpha absorbers - I. The case of the z=2.35 DLA towards Q2222-0946
- 2010
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 408:4, s. 2128-2136
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Tidskriftsartikel (refereegranskat)abstract
- We have initiated a survey using the newly commissioned X-shooter spectrograph to target candidate relatively metal-rich damped Ly alpha absorbers (DLAs). Our rationale is that high-metallicity DLAs due to the luminosity-metallicity relation likely will have the most luminous galaxy counterparts. In addition, the spectral coverage of X-shooter allows us to search for not only Ly alpha emission, but also rest-frame optical emission lines. We have chosen DLAs where the strongest rest-frame optical lines ([O II], [O III], H beta and H alpha) fall in the near-infrared atmospheric transmission bands. In this first paper resulting from the survey, we report on the discovery of the galaxy counterpart of the z(abs) = 2.354 DLA towards the z = 2.926 quasar Q2222-0946. This DLA is amongst the most metal-rich z > 2 DLAs studied so far at comparable redshifts and there is evidence for substantial depletion of refractory elements on to dust grains. We measure metallicities from Zn II, Si II, Ni II, Mn II and Fe II of -0.46 +/- 0.07, -0.51 +/- 0.06, -0.85 +/- 0.06, -1.23 +/- 0.06 and -0.99 +/- 0.06, respectively. The galaxy is detected in the Ly alpha, [O III] lambda lambda 4959, 5007 and H alpha emission lines at an impact parameter of about 0.8 arcsec (6 kpc at z(abs) = 2.354). Based on the H alpha line, we infer a star formation rate of 10M(circle dot) yr(-1), which is a lower limit due to the possibility of slit loss. Compared to the recently determined H alpha luminosity function for z = 2.2 galaxies, the DLA-galaxy counterpart has a luminosity of L similar to 0.1L*(H alpha). The emission-line ratios are 4.0 (Ly alpha/H alpha) and 1.2 ([O III]/H alpha). In particular, the Ly alpha line shows clear evidence for resonant scattering effects, namely an asymmetric, redshifted (relative to the systemic redshift) component and a much weaker blueshifted component. The fact that the blueshifted component is relatively weak indicates the presence of a galactic wind. The properties of the galaxy counterpart of this DLA are consistent with the prediction that metal-rich DLAs are associated with the most luminous of the DLA-galaxy counterparts.
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| 5. |
- Noterdaeme, P., et al.
(författare)
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Discovery of a compact gas-rich damped Lyman-alpha galaxy at z = 2.2 : evidence of a starburst driven outflow
- 2012
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 540, s. A63-
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Tidskriftsartikel (refereegranskat)abstract
- We present the detection of Ly alpha, [OIII], and H alpha emission associated with an extremely strong damped Lyman-alpha (DLA) system (N(HI) = 10(22.10) cm(-2)) at z = 2.207 towards the quasar SDSS J113520.39-001053.56. This is the largest Hi column density ever measured along a quasi-stellar object (QSO) line of sight, though typical of those often found in DLAs associated to gamma-ray bursts (GRBs). This absorption system can also be classified as an ultra-strong Mg II system with W-r(lambda 2796) similar or equal to 3.6 angstrom. The mean metallicity of the gas ([Zn/H] = -1.1) and dust depletion factors ([Zn/Fe] = 0.72, [Zn/Cr] = 0.49) are consistent with (and only marginally larger than) the mean values found in the general QSO-DLA population. The [OIII]-H alpha emitting region has a very small impact parameter with respect to the QSO line of sight, b approximate to 0.1 '' (0.9 kpc proper distance), and is unresolved. From the H alpha line, we measure a significant star formation rate (SFR) approximate to 25 M-circle dot yr(-1) (uncorrected for dust). The shape of the Ly alpha line is double-peaked, which is the signature of a resonant scattering of Ly alpha photons, and the Ly alpha emission is spatially extended. More strikingly, the blue and red Ly alpha peaks arise from distinct regions extended over a few kpc on either side of the star-forming region. We propose that this is the consequence of a Ly alpha transfer in outflowing gas. The presence of starburst-driven outflows is also in agreement with the high SFR together with the small size and low mass of the galaxy (M-vir similar to 10(10) M-circle dot). By placing constraints on the stellar UV continuum luminosity of the galaxy, we estimate an age of at most a few 10(7) yr, again consistent with a recent starburst scenario. We interpret these data as the observation of a young, gas-rich, compact starburst galaxy, from which material is expelled through collimated winds powered by the vigorous star formation activity. We substantiate this picture by modelling the radiative transfer of Ly alpha photons in the galactic counterpart. Though our model (a spherical galaxy with bipolar outflowing jets) is a simplistic representation of the true gas distribution and velocity field, the agreement between the observed and simulated properties is particularly good (spectral shape and width of the Lyman-alpha emission, spatial configuration, escape fraction as well as absorption kinematics, HI column density, and dust reddening). Finally, we propose that selecting DLAs with very high Hi column densities may be an efficient way of detecting star-forming galaxies at small impact parameters from the background QSO lines of sight.
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| 6. |
- Fynbo, J. P. U., et al.
(författare)
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On the two high-metallicity DLAs at z=2.412 and 2.583 towards Q 0918+1636
- 2013
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 436:1, s. 361-370
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Tidskriftsartikel (refereegranskat)abstract
- The quasar Q0918+1636 (z = 3.07) has two intervening high-metallicity Damped Lyman a Absorbers (DLAs) along the line of sight, at redshifts of z = 2.412 and 2.583. The z = 2.583 DLA is located at a large impact parameter of 16.2 kpc, and despite this large impact parameter it has a very high metallicity (consistent with solar), a substantial fraction of H-2 molecules and it is dusty as inferred from the reddened spectrum of the background QSO. The z = 2.412 DLA has a metallicity of [M/H] = -0.6 (based on Zn II and Si II). In this paper we present new observations of this interesting sightline consisting of deep multiband imaging and further VLT spectroscopy. By fitting stellar population synthesis models to the photometric Spectral Energy Distribution we constrain the physical properties of the z = 2.583 DLA galaxy, and we infer its morphology by fitting a Sersic model to its surface brightness profile. We find it to be a relatively massive (M-* approximate to 10(10) M-circle dot), strongly star-forming (SFR approximate to 30 M-circle dot yr(-1)), dusty (E(B - V) = 0.4) galaxy with a disc-like morphology. We detect strong emission lines from the z = 2.583 DLA ([O II] lambda 3727, [O III] lambda lambda 4960, 5007, H beta and H alpha, albeit at low signal-to-noise ratio except for the [O III] lambda 5007 line). The metallicity derived from the emission lines is consistent with the absorption metallicity (12 + log (O/H) = 8.8 +/- 0.2). We also detect [O III] lambda 5007 emission from the galaxy counterpart of the z = 2.412 DLA at a small impact parameter (<2 kpc). Overall our findings are consistent with the emerging picture that high-metallicity DLAs are associated with relatively luminous and massive galaxy counterparts, compared to typical DLAs.
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| 7. |
- LeDoux, MS, et al.
(författare)
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Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
- 2012
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Ingår i: Parkinsonism & Related Disorders. - : Elsevier BV. - 1873-5126 .- 1353-8020. ; 18:5, s. 414-425
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Tidskriftsartikel (refereegranskat)abstract
- An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1114 subjects with mainly adult-onset primary dystonia (Neurology 2010; 74:229-238) and identified 6 missense mutations in THAP1. For this report, we screened 750 additional subjects for mutations in coding regions of THAP1 and interrogated all published descriptions of THAP1 phenotypes (gender, age of onset, anatomical distribution of dystonia, family history and site of onset) to explore the possibility of THAP1 genotype-phenotype correlations and facilitate a deeper understanding of THAP1 pathobiology. We identified 5 additional missense mutations in THAP1 (p.A7D, p.K16E, p.S21C, p.R29Q, and p.I80V). Three of these variants are associated with appendicular tremors, which were an isolated or presenting sign in some of the affected subjects. Abductor laryngeal dystonia and mild blepharospasm can be manifestations of THAP1 mutations in some individuals. Overall, mean age of onset for THAP1 dystonia is 16.8 years and the most common sites of onset are the arm and neck, and the most frequently affected anatomical site is the neck. In addition, over half of patients exhibit either cranial or laryngeal involvement. Protein truncating mutations and missense mutations within the THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1.
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| 8. |
- Öhrn, A., et al.
(författare)
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Measurements of Inelastic Neutron Scattering at 96 MeV from Carbon, Iron, Yttrium and Lead
- 2011
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Ingår i: Journal of the Korean Physical Society. - : Korean Physical Society. - 0374-4884 .- 1976-8524. ; 59:2, s. 1817-1820
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Tidskriftsartikel (refereegranskat)abstract
- Inelastic neutron scattering for (12)C, (58)Fe, (89)Y and (208)Pb have been measured at 96 MeV at the The Svedberg Laboratory in Uppsala and double-differential cross sections are reported. Data cover an excitation energy range of 0-45 MeV and the angular intervals are 28 - 58 degrees for (12)C, 26 - 65 degrees for (58)Fe and 26 - 52 degrees for (89)Y and (208)Pb. In this experiment, neutron detection is based on conversion to protons in an active scintillator converter. An analysis technique in which the neutron spectra have been obtained through a folding procedure using the response of the detector system has been used. The results are compared to and are in reasonable agreement with several model predictions and with inelastic neutron scattering data at 65 MeV from University of California, Davis, USA.
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