Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of an Australian family with three males ...displaying clinical features of early-onset parkinsonism and intellectual disability identified a ∼45 kb deletion resulting in the complete loss of RAB39B. We subsequently identified a missense mutation (c.503C>A p.Thr168Lys) in RAB39B in an unrelated Wisconsin kindred affected by a similar clinical phenotype. In silico and in vitro studies demonstrated that the mutation destabilized the protein, consistent with loss of function. In vitro small-hairpin-RNA-mediated knockdown of Rab39b resulted in a reduction in the density of α-synuclein immunoreactive puncta in dendritic processes of cultured neurons. In addition, in multiple cell models, we demonstrated that knockdown of Rab39b was associated with reduced steady-state levels of α-synuclein. Post mortem studies demonstrated that loss of RAB39B resulted in pathologically confirmed Parkinson disease. There was extensive dopaminergic neuron loss in the substantia nigra and widespread classic Lewy body pathology. Additional pathological features included cortical Lewy bodies, brain iron accumulation, tau immunoreactivity, and axonal spheroids. Overall, we have shown that loss-of-function mutations in RAB39B cause intellectual disability and pathologically confirmed early-onset Parkinson disease. The loss of RAB39B results in dysregulation of α-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders.
We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole‐exome sequencing identified a heterozygous germline ...frameshift mutation in the gene encoding nitrogen permease regulator‐like 3 (NPRL3). NPRL3 is a component of GAP Activity Towards Rags 1, a negative regulator of the mammalian target of rapamycin complex 1 signaling pathway. Immunostaining of resected brain tissue demonstrated mammalian target of rapamycin activation. Screening of 52 unrelated individuals with FCD identified 2 additional patients with FCDIIa and germline NPRL3 mutations. Similar to DEPDC5, NPRL3 mutations may be considered as causal variants in patients with FCD or magnetic resonance imaging–negative focal epilepsy. ANN NEUROL 2016;79:132–137
Context.
MS 0735.6+7421 is a galaxy cluster that hosts a central radio galaxy with a very steep spectrum. The spectrum is produced by one of the most powerful known jetted active galactic nuclei ...(AGN). The radio plasma, ejected at nearly light speed from the central AGN, has displaced the intra-cluster medium, leaving two pairs of cavities observable in the X-ray. The cavities are associated with two different outbursts and have distributed energy to the surrounding medium. While the age of the cavities has previously been estimated from the X-rays, no confirmation from radio data is available. Furthermore, the radio spectrum has only been derived from integrated flux density measurements so far, and the spatial distribution that would help us to understand the nature of this source is still lacking.
Aims.
We perform for the first time a detailed, high-resolution spectral study of the source at radio frequencies and investigate its duty cycle. We compare this with previous X-ray estimates.
Methods.
We used new observations at 144 MHz produced with the LOw Frequency ARray (LOFAR) together with archival data at higher frequencies (235, 325, 610, 1400, and 8500 MHz), to investigate the spectral properties of the source. We also used radiative models to constrain the age of the source.
Results.
At the LOFAR frequency, the source presents two large outer radio lobes that are wider than at higher frequencies, and a smaller intermediate lobe that is located south-west of the core. A new inspection of X-ray data allowed us to identify an intermediate cavity that is associated with this lobe. It indicates a further phase of jet activity. The radio lobes have a steep spectrum even at LOFAR frequencies, reaching
α
144
610
= 2.9 in the outer lobes and
α
144
610
= 2.1 in the intermediate lobe. Fitting the lobe spectra using a single injection model of particle ageing, we derived a total age of the source between 170 and 106 Myr. This age agrees with the buoyancy and sound-crossing timescales derived from X-ray data. The resolution of the spectral age map we performed allows us to reconstruct the duty cycle of the source. In three phases of jet activity, the AGN was active for most of the time with only brief quiescent phases that ensured the repeated heating of the central gas. Finally, we estimated the minimum energy inside the outer lobes. We find that a source of additional pressure support must be present to sustain the bubbles against the pressure of the external medium.
The main purpose of this work is to investigate the properties of the non-thermal emission in the interacting clusters pairs Abell 0399-Abell 0401 and Abell 21-PSZ2 G114.9, found in an interacting ...state. In both cases their connection along a filament is supported by SZ effect detected by the Planck satellite and, in the special case of Abell 0399-Abell 0401, the presence of a radio bridge has been already confirmed by LOFAR observations at 140MHz. Here, we analyse new high sensitivity wideband (250-500MHz) uGMRT data of these two systems and describe an injection procedure to place limits on the spectrum of Abell 0399-Abell 0401 and on the radio emission between Abell 21-PSZ2 G114.9. For the A399-A401 pair, we are able to constrain the steep spectral index of the bridge emission to be alpha>2.2 with a 95% confidence level between 140MHz and 400MHz. For the A21-PSZ2 G114.9 pair, we are able to place an upper limit on the flux density of the bridge emission with two different methods, finding at the central frequency of 383MHz a conservative value of fu_1<260mJy at 95% confidence level, and a lower value of fu_2<125mJy at 80% confidence level, based on visual inspection and a morphological criterion. Our work provides a constraint on the spectrum in the bridge A399-A401 which disfavours shock-acceleration as the main mechanism for the radio emission.
Clusters of galaxies are turbulent environments, whether merging systems with a turbulent intracluster medium (ICM) or relaxed systems sloshing within the potential well. In many such clusters, ...diffuse radio sources associated with the ICM are found: radio haloes and mini-haloes. Abell 2142 is a rich cluster undergoing extreme core sloshing, generating four cold fronts and a complex multi-component radio halo. Recent work revealed three halo components which span 2.4 Mpc. Particle acceleration on such scales is poorly understood, and requires high-quality multi-frequency data to understand. We use new deep MeerKAT L-band (1283 MHz) observations, combined with LOFAR HBA (143 MHz) data and X-ray data from XMM-Newton and Chandra to study the spectrum of the halo and the connection between the thermal and non-thermal components of the ICM. We detect the third halo component for the first time at 1283 MHz and confirm its ultra-steep spectrum nature, recovering \(\alpha_{\rm H3, total} = -1.68 \pm 0.10\). All components follow power-law spectra which steepen toward the cluster outskirts. We profile the halo along three directions, finding evidence of asymmetry and spectral steepening perpendicular to the main axis of the cluster. Our thermal/non-thermal investigation shows sub-linear correlations that are steeper at 1283 MHz than 143 MHz, and we find different connections in different components of the halo. We find both a moderate anti-correlation (H1, the core) and positive correlation (H2, the ridge) between radio spectral index and X-ray temperature. Our results are broadly consistent with an interpretation of inhomogeneous turbulent (re-)acceleration. However, the anti-correlation between radio spectral index and X- ray temperature in the cluster core is challenging to explain; the presence of three cold fronts and a generally lower temperature may provide the foundations of an explanation.
Abell 3667 is a nearby merging cluster with a prominent cold front and a pair of two bright radio relics. Assuming a head-on merger, the origin of the cold front is often considered to be a remnant ...of the cluster core stripped by its surrounding ICM. Some authors have proposed an offset merger scenario in which the subcluster core rotates after the first core crossing. This scenario can reproduce features such as the cold front and a pair of radio relics. To distinguish between these scenarios, we reanalyzed the ICM distribution and measured the line-of-sight bulk ICM velocity using the XMM-Newton PN data. In the unsharp masked image, we identify several ICM features. The notable feature is a RG1 vortex, which is a clockwise vortex-like enhancement with a radius of about 250 kpc connecting the first BCG to the radio galaxy (RG1). It is particularly enhanced near the north of the 1st BCG, which is named the BCG-N tail. The thermodynamic maps show that the ICM of the RG1 vortex has a relatively high abundance of 0.5-0.6 solar compared to the surrounding regions. The ICM of the BCG-E tail also has a high abundance and low pseudo-entropy and can be interpreted as a remnant of the cluster core's ICM. Including its arc-like shape, the RG1 vortex supports the idea that the ICM around the cluster center is rotating, which is natural for an offset merger scenario. The results of the line-of-sight bulk ICM velocity measurements show that the ICM around the BCG-N tail is redshifted with a velocity difference of 940+/-440 km/s compared to the optical redshift of the first BCG. We obtain other indications of variations in the line-of-sight velocity of the ICM and discuss these in the context of an offset merger.
Among the bent tail radio galaxies common in galaxy clusters are some with long, collimated tails (so-called head-tail galaxies) shaped by their interactions with the intracluster medium (ICM). Here ...we report the discovery of intricate filamentary structure in and beyond the ~28' (570 kpc) long, helical radio tail of the Corkscrew Galaxy (1610-60.5, ESO137-G007), which resides in the X-ray bright cluster Abell 3627 (D = 70 Mpc). Deep radio continuum data were obtained with wide-field Phased Array Feeds on the Australian Square Kilometer Array Pathfinder (ASKAP) at 944 MHz and 1.4 GHz. The Corkscrew Galaxy is located 15' north of the prominent wide-angle tail (WAT) radio galaxy 1610-60.8 (ESO137-G006) near the cluster centre. While the bright (young) part of its radio tail is highly collimated, the faint (old) part shows increasing oscillation amplitudes, break-ups, and filaments. We find a stunning set of arc-shaped radio filaments beyond and mostly orthogonal to the collimated Corkscrew tail end, forming a partial bubble. This may be the first detection of a "proto-lobe" seen in 3D MHD simulations by Nolting et al. (2019), formed by the face-on impact of the Corkscrew Galaxy with a shock front in the cluster outskirts. Interactions of the radio galaxy tail with the ICM are likely responsible for the tail collimation and shear forces within the ICM for its increasingly filamentary structure. We also report the discovery of small (~20-30 kpc) ram-pressure stripped radio tails in four Abell 3627 cluster galaxies.
In this work, we analysed new LOw Frequency ARray observations of the mini halo in the cluster RBS797, together with archival Very Large Array observations and the recent Chandra results. This ...cluster is known to host a powerful active galactic nucleus (AGN) at its centre, with two pairs of jets propagating in orthogonal directions. Recent X-ray observations have detected three pairs of shock fronts, connected with the activity of the central AGN. Our aim is to investigate the connection between the mini halo emission and the activity of the central source. We find that the diffuse radio emission is elongated in different directions at 144 MHz (east-west) with respect to 1.4 GHz (north-south), tracing the orientation of the two pairs of jets. The mini halo emission is characterised by an average spectral index \(\alpha=-1.02\pm 0.05\). The spectral index profile of the mini halo shows a gradual flattening from the centre to the periphery. Such a trend is unique among the mini halos studied to date, and resembles the spectral index trend typical of particles re-accelerated by shocks. However, the estimated contribution to the radio brightness profile coming from shock re-acceleration is found to be insufficient to account for the radial brightness profile of the mini halo. We propose three scenarios that could explain the observed trend: (i) the AGN-driven shocks are propagating onto an already existing mini halo, re-energising the electrons. We estimate that the polarisation induced by the shocks could be detected at 6 GHz and above; (ii) we could be witnessing turbulent re-acceleration in a high magnetic field cluster; and (iii) the mini halo could have a hadronic origin, in which the particles are injected by Future observations in polarisation would be fundamental to understand the role of shocks and the magnetic field.
Radio observations of a few cool-core galaxy clusters have revealed the presence of diffuse emission on cluster scales, similar to what was found in merging clusters in the form of radio halos. These ...sources might suggest that a minor merger, while not sufficiently energetic to disrupt the cool core, could still trigger particle acceleration in the intracluster medium on scales of hundreds of kpc. We observed with LOFAR at 144 MHz a sample of twelve cool-core galaxy clusters presenting some level of dynamical disturbances, according to X-ray data. We also performed a systematic search of cold fronts in these clusters, re-analysing archival Chandra data. The clusters PSZ1G139.61+24, A1068 (new detection), MS 1455.0+2232, and RX J1720.1+2638 present diffuse radio emission on a cluster scale. This emission is characterised by a double component: a central mini-halo confined by cold fronts and diffuse emission on larger scales, whose radio power at 144 MHz is comparable to that of radio halos detected in merging systems. The cold fronts in A1068 are a new detection. We also found a candidate plasma depletion layer in this cluster. No sloshing features are found in the other eight clusters. Two of them present a mini-halo, with diffuse radio emission confined to the cluster core. We also found a new candidate mini-halo. Whereas, for the remaining five clusters, we did not detect halo-like emission. For clusters without cluster-scale halos, we derived upper limits to the radio halo power. We found that cluster-scale diffuse radio emission is not present in all cool-core clusters when observed at a low frequency, but it is correlated to the presence of cold fronts. This morphology requires a specific configuration of the merger and so it puts some constraints on the turbulence, which deserves to be investigated in the future with theoretical works.
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