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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/30239641/a-feedback-loop-between-dipeptide-repeat-protein-tdp-43-and-karyopherin-%C3%AE-mediates-c9orf72-related-neurodegeneration
#1
Daniel A Solomon, Alan Stepto, Wing Hei Au, Yoshitsugu Adachi, Danielle C Diaper, Rachel Hall, Anjeet Rekhi, Adel Boudi, Paraskevi Tziortzouda, Youn-Bok Lee, Bradley Smith, Jessika C Bridi, Greta Spinelli, Jonah Dearlove, Dickon M Humphrey, Jean-Marc Gallo, Claire Troakes, Manolis Fanto, Matthias Soller, Boris Rogelj, Richard B Parsons, Christopher E Shaw, Tibor Hortobágyi, Frank Hirth
Accumulation and aggregation of TDP-43 is a major pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. TDP-43 inclusions also characterize patients with GGGGCC (G4C2) hexanucleotide repeat expansion in C9orf72 that causes the most common genetic form of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Functional studies in cell and animal models have identified pathogenic mechanisms including repeat-induced RNA toxicity and accumulation of G4C2-derived dipeptide-repeat proteins...
September 19, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30239618/evidence-for-peri-ictal-blood-brain-barrier-dysfunction-in-patients-with-epilepsy
#2
Theodor Rüber, Bastian David, Guido Lüchters, Robert D Nass, Alon Friedman, Rainer Surges, Tony Stöcker, Bernd Weber, Ralf Deichmann, Gottfried Schlaug, Elke Hattingen, Christian E Elger
Epilepsy has been associated with a dysfunction of the blood-brain barrier. While there is ample evidence that a dysfunction of the blood-brain barrier contributes to epileptogenesis, blood-brain barrier dysfunction as a consequence of single epileptic seizures has not been systematically investigated. We hypothesized that blood-brain barrier dysfunction is temporally and anatomically associated with epileptic seizures in patients and used a newly-established quantitative MRI protocol to test our hypothesis...
September 19, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30239612/uba1-gars-dependent-pathways-drive-sensory-motor-connectivity-defects-in-spinal-muscular-atrophy
#3
Hannah K Shorrock, Dinja van der Hoorn, Penelope J Boyd, Maica Llavero Hurtado, Douglas J Lamont, Brunhilde Wirth, James N Sleigh, Giampietro Schiavo, Thomas M Wishart, Ewout J N Groen, Thomas H Gillingwater
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown. We show that restoration of ubiquitin-like modifier-activating enzyme 1 (UBA1) was sufficient to correct sensory-motor connectivity in the spinal cord of mice with spinal muscular atrophy. Aminoacyl-tRNA synthetases, including GARS, were identified as downstream targets of UBA1. Regulation of GARS by UBA1 occurred via a non-canonical pathway independent of ubiquitylation...
September 19, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30239611/white-matter-diffusion-alterations-precede-symptom-onset-in-autosomal-dominant-alzheimer-s-disease
#4
Miguel Ángel Araque Caballero, Marc Suárez-Calvet, Marco Duering, Nicolai Franzmeier, Tammie Benzinger, Anne M Fagan, Randall J Bateman, Clifford R Jack, Johannes Levin, Martin Dichgans, Mathias Jucker, Celeste Karch, Colin L Masters, John C Morris, Michael Weiner, Martin Rossor, Nick C Fox, Jae-Hong Lee, Stephen Salloway, Adrian Danek, Alison Goate, Igor Yakushev, Jason Hassenstab, Peter R Schofield, Christian Haass, Michael Ewers
White matter alterations are present in the majority of patients with Alzheimer's disease type dementia. However, the spatiotemporal pattern of white matter changes preceding dementia symptoms in Alzheimer's disease remains unclear, largely due to the inherent diagnostic uncertainty in the preclinical phase and increased risk of confounding age-related vascular disease and stroke in late-onset Alzheimer's disease. In early-onset autosomal-dominantly inherited Alzheimer's disease, participants are destined to develop dementia, which provides the opportunity to assess brain changes years before the onset of symptoms, and in the absence of ageing-related vascular disease...
September 19, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30212896/learning-from-other-autoimmunities-to-understand-targeting-of-b-cells-to-control-multiple-sclerosis
#5
David Baker, Gareth Pryce, Sandra Amor, Gavin Giovannoni, Klaus Schmierer
Although many suspected autoimmune diseases are thought to be T cell-mediated, the response to therapy indicates that depletion of B cells consistently inhibits disease activity. In multiple sclerosis, it appears that disease suppression is associated with the long-term reduction of memory B cells, which serves as a biomarker for disease activity in many other CD20+ B cell depletion-sensitive, autoimmune diseases. Following B cell depletion, the rapid repopulation by transitional (immature) and naïve (mature) B cells from the bone marrow masks the marked depletion and slow repopulation of lymphoid tissue-derived, memory B cells...
September 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30212860/reply-brain-oscillations-inhibition-and-social-inappropriateness-in-frontotemporal-degeneration
#6
Laura E Hughes, Timothy Rittman, Trevor W Robbins, James B Rowe
No abstract text is available yet for this article.
September 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30212839/apathy-in-rapid-eye-movement-sleep-behaviour-disorder-is-associated-with-serotonin-depletion-in-the-dorsal-raphe-nucleus
#7
Thomas R Barber, Ludovica Griffanti, Kinan Muhammed, Daniel S Drew, Kevin M Bradley, Daniel R McGowan, Marie Crabbe, Christine Lo, Clare E Mackay, Masud Husain, Michele T Hu, Johannes C Klein
Apathy is a common and under-recognized disorder that often emerges in the prodromal phase of Parkinsonian diseases. The mechanism by which this occurs is not known, but recent evidence from patients with established Parkinson's disease suggests that serotonergic dysfunction may play a role. The integrity of the raphe serotonergic system can be assessed alongside dopaminergic basal ganglia imaging using the radioligand 123I-ioflupane, which binds both serotonin and dopamine transporters. To investigate the relative roles of these neurotransmitters in prodromal parkinsonism, we imaged patients with idiopathic rapid eye movement sleep behaviour disorder, the majority of whom will develop a parkinsonian disorder in future...
September 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30212838/brain-oscillations-inhibition-and-social-inappropriateness-in-frontotemporal-degeneration
#8
Agustín Ibáñez
No abstract text is available yet for this article.
September 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30203037/reply-two-cases-of-clippers-with-increased-number-of-perivascular-cd20-positive-b-lymphocytes
#9
W Oliver Tobin, Yong Guo, B Mark Keegan
No abstract text is available yet for this article.
September 6, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30202949/two-cases-of-clippers-with-increased-number-of-perivascular-cd20-positive-b-lymphocytes
#10
Fang Yi, Yun Tian, Xiao-Yu Chen, Yafang Zhou, Ya-Cen Hu, Qiying Sun, Ji-Feng Guo, Beisha Tang, Lin Zhou, Jing Li, Hong-Wei Xu
No abstract text is available yet for this article.
September 6, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30202947/stem-cell-therapies-in-neurology-the-good-the-bad-and-the-unknown
#11
Louisa Lyon
No abstract text is available yet for this article.
September 6, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30169597/iron-overload-is-accompanied-by-mitochondrial-and-lysosomal-dysfunction-in-wdr45-mutant-cells
#12
Philip Seibler, Lena F Burbulla, Marija Dulovic, Simone Zittel, Johanne Heine, Thomas Schmidt, Franziska Rudolph, Ana Westenberger, Aleksandar Rakovic, Alexander Münchau, Dimitri Krainc, Christine Klein
Beta-propeller protein-associated neurodegeneration is a subtype of monogenic neurodegeneration with brain iron accumulation caused by de novo mutations in WDR45. The WDR45 protein functions as a beta-propeller scaffold and plays a putative role in autophagy through its interaction with phospholipids and autophagy-related proteins. Loss of WDR45 function due to disease-causing mutations has been linked to defects in autophagic flux in patient and animal cells. However, the role of WDR45 in iron homeostasis remains elusive...
August 30, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30169600/improved-mobility-with-metformin-in-patients-with-myotonic-dystrophy-type-1-a-randomized-controlled-trial
#13
Guillaume Bassez, Etienne Audureau, Jean-Yves Hogrel, Raphaëlle Arrouasse, Sandrine Baghdoyan, Hamza Bhugaloo, Marie-Laurence Gourlay-Chu, Philippe Le Corvoisier, Marc Peschanski
Metformin, the well-known anti-diabetic drug, has been shown recently to improve the grip test performance of the DMSXL mouse model of myotonic dystrophy type 1. The drug may have positively affected muscle function via several molecular mechanisms, on RNA splicing, autophagia, insulin sensitivity or glycogen synthesis. Myotonic dystrophy remains essentially an unmet medical need. Since metformin benefits from a good toxicity profile, we investigated its potential for improving mobility in patients. Forty ambulatory adult patients were recruited consecutively at the neuromuscular reference centre of Henri-Mondor Hospital...
August 29, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30169608/dynamic-brain-network-states-in-human-generalized-spike-wave-discharges
#14
Chayanin Tangwiriyasakul, Suejen Perani, Maria Centeno, Siti Nurbaya Yaakub, Eugenio Abela, David W Carmichael, Mark P Richardson
Generalized spike-wave discharges in idiopathic generalized epilepsy are conventionally assumed to have abrupt onset and offset. However, in rodent models, discharges emerge during a dynamic evolution of brain network states, extending several seconds before and after the discharge. In human idiopathic generalized epilepsy, simultaneous EEG and functional MRI shows cortical regions may be active before discharges, and network connectivity around discharges may not be normal. Here, in human idiopathic generalized epilepsy, we investigated whether generalized spike-wave discharges emerge during a dynamic evolution of brain network states...
August 28, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30169601/basal-ganglia-and-cerebellar-pathology-in-x-linked-dystonia-parkinsonism
#15
Henrike Hanssen, Marcus Heldmann, Jannik Prasuhn, Volker Tronnier, Dirk Rasche, Cid C Diesta, Aloysius Domingo, Raymond L Rosales, Roland D Jamora, Christine Klein, Thomas F Münte, Norbert Brüggemann
X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with parkinsonism over the disease course. Previous imaging and pathological findings indicate exclusive striatal atrophy with predominant pathology of the striosomal compartment in the dystonic phase of X-linked dystonia-parkinsonism. The striosome occupies 10-15% of the entire striatal volume and the density of striosomes follows a rostrocaudal gradient with the rostral striatum being considered striosome-rich...
August 28, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30165597/neuroprotective-exendin-4-enhances-hypothermia-therapy-in-a-model-of-hypoxic-ischaemic-encephalopathy
#16
Eridan Rocha-Ferreira, Laura Poupon, Aura Zelco, Anna-Lena Leverin, Syam Nair, Andrea Jonsdotter, Ylva Carlsson, Claire Thornton, Henrik Hagberg, Ahad A Rahim
Hypoxic-ischaemic encephalopathy remains a global health burden. Despite medical advances and treatment with therapeutic hypothermia, over 50% of cooled infants are not protected and still develop lifelong neurodisabilities, including cerebral palsy. Furthermore, hypothermia is not used in preterm cases or low resource settings. Alternatives or adjunct therapies are urgently needed. Exendin-4 is a drug used to treat type 2 diabetes mellitus that has also demonstrated neuroprotective properties, and is currently being tested in clinical trials for Alzheimer's and Parkinson's diseases...
August 24, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30165511/parkinsonian-signs-in-patients-with-cervical-dystonia-treated-with-pallidal-deep-brain-stimulation
#17
Philipp Mahlknecht, Dejan Georgiev, Harith Akram, Florian Brugger, Saman Vinke, Ludvic Zrinzo, Marwan Hariz, Kailash P Bhatia, Gun-Marie Hariz, Peter Willeit, John C Rothwell, Thomas Foltynie, Patricia Limousin
Pallidal deep brain stimulation is an established treatment in patients with dystonia. However, evidence from case series or uncontrolled studies suggests that it may lead in some patients to specific parkinsonian symptoms such as freezing of gait, micrographia, and bradykinesia. We investigated parkinsonian signs using the Movement Disorder Society Unified Parkinson's Disease Rating Scale motor score by means of observer-blinded video ratings in a group of 29 patients treated with pallidal stimulation and a non-surgical control group of 22 patients, both with predominant cervical dystonia...
August 24, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30165427/balance-control-systems-in-parkinson-s-disease-and-the-impact-of-pedunculopontine-area-stimulation
#18
Thushara Perera, Joy L Tan, Michael H Cole, Shivy A C Yohanandan, Paul Silberstein, Raymond Cook, Richard Peppard, Tipu Aziz, Terry Coyne, Peter Brown, Peter A Silburn, Wesley Thevathasan
Impaired balance is a major contributor to falls and diminished quality of life in Parkinson's disease, yet the pathophysiology is poorly understood. Here, we assessed if patients with Parkinson's disease and severe clinical balance impairment have deficits in the intermittent and continuous control systems proposed to maintain upright stance, and furthermore, whether such deficits are potentially reversible, with the experimental therapy of pedunculopontine nucleus deep brain stimulation. Two subject groups were assessed: (i) 13 patients with Parkinson's disease and severe clinical balance impairment, implanted with pedunculopontine nucleus deep brain stimulators; and (ii) 13 healthy control subjects...
August 24, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30137217/induction-of-migraine-like-headache-but-not-aura-by-cilostazol-in-patients-with-migraine-with-aura
#19
Jawad H Butt, Egill Rostrup, Aina S Hansen, Kate L Lambertsen, Christina Kruuse
Whether migraine headache and migraine aura share common pathophysiological mechanisms remains to be understood. Cilostazol causes cAMP accumulation and provokes migraine-like headache in migraine patients without aura. We investigated if cilostazol induces aura and migraine-like headache in patients with migraine with aura and alters peripheral endothelial function and levels of endothelial markers. In a randomized, double-blinded, placebo-controlled crossover study, 16 patients with migraine with aura (of whom 12 patients exclusively had attacks of migraine with aura) received 200 mg cilostazol (Pletal®) or placebo on two separate days...
August 22, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30137257/corrigendum
#20
(no author information available yet)
No abstract text is available yet for this article.
August 20, 2018: Brain: a Journal of Neurology
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