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Sökning: WFRF:(DeCarli C)

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  • Gallagher, Michael D., et al. (författare)
  • TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
  • 2014
  • Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 127:3, s. 407-418
  • Tidskriftsartikel (refereegranskat)abstract
    • Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at TMEM106B influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA-binding protein of 43 kDa (FTLD-TDP). Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here, we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with C9orf72 expansions (n = 14), with the major allele correlated with later age at death (p = 0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with C9orf72 expansions (n = 75), again finding that the major allele associates with later age at death (p = 0.016), as well as later age at onset (p = 0.019). In contrast, TMEM106B genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for GRN mutations or C9orf72 expansions. Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
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24.
  • Sacuiu, Simona, 1971, et al. (författare)
  • Chronic Depressive Symptomatology in Mild Cognitive Impairment Is Associated with Frontal Atrophy Rate which Hastens Conversion to Alzheimer Dementia
  • 2016
  • Ingår i: American Journal of Geriatric Psychiatry. - : Elsevier BV. - 1064-7481. ; 24:2, s. 126-135
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: Investigate the association of chronic depressive symptomatology (chrDS) with cortical atrophy rates and conversion to Alzheimer dementia (AD) over 3 years in mild cognitive impairment (MCI). Methods: In a multicenter, clinic-based study, MCI elderly participants were selected from the Alzheimer's Disease Neuroimaging Initiative repository, based on availability of both serial structural magnetic resonance imaging and chrDS endorsed on three depression-related items from the Neuropsychiatric Inventory Questionnaire (chrDS N = 32 or no depressive symptoms N = 62) throughout follow-up. Clinical and laboratory investigations were performed every 6 months during the first 2 years and yearly thereafter (median follow-up: 3 years; interquartile range: 1.5-4.0 years). Cortical atrophy rates in 16 predefined frontotemporoparietal regions affected in major depression and AD and the rate of incident AD at follow-up. Results: ChrDS in a single domain amnestic MCI sample were associated with accelerated cortical atrophy in the frontal lobe and anterior cingulate but not with atrophy rates in temporomedial or other AD-affected regions. During follow-up, 38 participants (42.7%) developed AD. Participants with chrDS had 60% shorter conversion time to AD than those without depressive symptoms. This association remained significant in survival models adjusted for temporomedial atrophy rates and showed the same trend in models adjusted for frontal cortical atrophy rate, which all increased the risk of AD. Conclusion: Our results suggest that chrDS associated with progressive atrophy of frontal regions may represent an additional risk factor for conversion to dementia in MCI as opposite to representing typical prodromal AD symptomatology.
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  • Wardlaw, Joanna M., et al. (författare)
  • Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration
  • 2013
  • Ingår i: Lancet Neurology. - 1474-4465. ; 12:8, s. 822-838
  • Forskningsöversikt (refereegranskat)abstract
    • Cerebral small vessel disease (SVD) is a common accompaniment of ageing. Features seen on neuroimaging include recent small subcortical infarcts, lacunes, white matter hyperintensities, perivascular spaces, microbleeds, and brain atrophy. SVD can present as a stroke or cognitive decline, or can have few or no symptoms. SVD frequently coexists with neurodegenerative disease, and can exacerbate cognitive deficits, physical disabilities, and other symptoms of neurodegeneration. Terminology and definitions for imaging the features of SVD vary widely, which is also true for protocols for image acquisition and image analysis. This lack of consistency hampers progress in identifying the contribution of SVD to the pathophysiology and clinical features of common neurodegenerative diseases. We are an international working group from the Centres of Excellence in Neurodegeneration. We completed a structured process to develop definitions and imaging standards for markers and consequences of SVD. We aimed to achieve the following: first, to provide a common advisory about terms and definitions for features visible on MRI; second, to suggest minimum standards for image acquisition and analysis; third, to agree on standards for scientific reporting of changes related to SVD on neuroimaging; and fourth, to review emerging imaging methods for detection and quantification of preclinical manifestations of SVD. Our findings and recommendations apply to research studies, and can be used in the clinical setting to standardise image interpretation, acquisition, and reporting. This Position Paper summarises the main outcomes of this international effort to provide the STandards for Reporting Vascular changes on nEuroimaging (STRIVE).
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27.
  • da Cunha, E., et al. (författare)
  • Measurements of the Dust Properties in z similar or equal to 1-3 Submillimeter Galaxies with ALMA
  • 2021
  • Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 919:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We present Atacama Large Millimeter/submillimeter Array (ALMA) 2 mm continuum observations of a complete and unbiased sample of 99 870 mu m selected submillimeter galaxies (SMGs) in the Extended Chandra Deep Field South (ALESS). Our observations of each SMG reach average sensitivities of 53 mu Jy beam(-1). We measure the flux densities for 70 sources, for which we obtain a typical 870 mu m-to-2 mm flux ratio of 14 +/- 5. We do not find a redshift dependence of this flux ratio, which would be expected if the dust emission properties of our SMGs were the same at all redshifts. By combining our ALMA measurements with existing Herschel/SPIRE observations, we construct a (biased) subset of 27 galaxies for which the cool dust emission is sufficiently well sampled to obtain precise constraints on their dust properties using simple isothermal models. Thanks to our new 2 mm observations, the dust emissivity index is well constrained and robust against different dust opacity assumptions. The median dust emissivity index of our SMGs is beta similar or equal to 1.9 +/- 0.4, consistent with the emissivity index of dust in the Milky Way and other local and high-redshift galaxies, as well as classical dust-grain model predictions. We also find a negative correlation between the dust temperature and beta, similar to low-redshift observational and theoretical studies. Our results indicate that beta similar or equal to 2 in high-redshift dusty star-forming galaxies, implying little evolution in dust-grain properties between our SMGs and local dusty galaxy samples, and suggesting that these high-mass and high-metallicity galaxies have dust reservoirs driven by grain growth in their interstellar medium.
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28.
  • Decarli, R., et al. (författare)
  • An Alma Survey of Sub-Millimeter Galaxies in the Extended Chandra Deep Field South: Sub-Millimeter Properties of Color-Selected Galaxies
  • 2014
  • Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 780:2
  • Tidskriftsartikel (refereegranskat)abstract
    • We study the sub-millimeter properties of color-selected galaxies via a stacking analysis applied for the first time to interferometric data at sub-millimeter wavelengths. We base our study on 344 GHz ALMA continuum observations of similar to 20 ''-wide fields centered on 86 sub-millimeter sources detected in the LABOCA Extended Chandra Deep Field South (ECDFS) Sub-millimeter Survey. We select various classes of galaxies (K-selected, star-forming sBzK galaxies, extremely red objects, and distant red galaxies) according to their optical/near-infrared fluxes. We find clear, >10 sigma detections in the stacked images of all these galaxy classes. We include in our stacking analysis Herschel/SPIRE data to constrain the dust spectral energy distribution of these galaxies. We find that their dust emission is well described by a modified blackbody with T-dust approximate to 30 K and beta = 1.6 and infrared luminosities of (5-11) x 10(11) L-circle dot or implied star formation rates of 75-140 M-circle dot yr(-1). We compare our results with those of previous studies based on single-dish observations at 870 mu m and find that our flux densities are a factor 2-3 higher than previous estimates. The discrepancy is observed also after removing sources individually detected in ALESS maps. We report a similar discrepancy by repeating our analysis on 1.4 GHz observations of the whole ECDFS. Hence, we find tentative evidence that galaxies that are associated in projected and redshift space with sub-mm bright sources are brighter than the average population. Finally, we put our findings in the context of the cosmic star formation rate density as a function of redshift.
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  • Hodge, J. A., et al. (författare)
  • ALMA Reveals Potential Evidence for Spiral Arms, Bars, and Rings in High-redshift Submillimeter Galaxies
  • 2019
  • Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 876:2
  • Tidskriftsartikel (refereegranskat)abstract
    • We present subkiloparsec-scale mapping of the 870 mu m ALMA continuum emission in six luminous (LIR similar to 5 x 10(12 )L(circle dot)) submillimeter galaxies (SMGs) from the ALESS survey of the Extended Chandra Deep Field South. Our high-fidelity 0 ''.07-resolution imaging (similar to 500 pc) reveals robust evidence for structures with deconvolved sizes of less than or similar to 0.5-1 kpc embedded within (dominant) exponential dust disks. The large-scale morphologies of the structures within some of the galaxies show clear curvature and/or clump-like structures bracketing elongated nuclear emission, suggestive of bars, star-forming rings, and spiral arms. In this interpretation, the ratio of the "ring" and "bar" radii (1.9 +/- 0.3) agrees with that measured for such features in local galaxies. These potential spiral/ring/bar structures would be consistent with the idea of tidal disturbances, with their detailed properties implying flat inner rotation curves and Toomre-unstable disks (Q < 1). The inferred one-dimensional velocity dispersions (sigma(r) less than or similar to 70-160 km s(-1)) are marginally consistent with the limits implied if the sizes of the largest structures are comparable to the Jeans length. We create maps of the star formation rate density (Sigma(SFR)) on similar to 500 pc scales and show that the SMGs are able to sustain a given (galaxy-averaged) E-SFR over much larger physical scales than local (ultra)luminous infrared galaxies. However, on 500 pc scales, they do not exceed the Eddington limit set by radiation pressure on dust. If confirmed by kinematics, the potential presence of nonaxisymmetric structures would provide a means for net angular momentum loss and efficient star formation, helping to explain the very high star formation rates measured in SMGs.
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  • Resultat 21-30 av 34

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