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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/28641383/neuroprotection-in-stroke-the-importance-of-collaboration-and-reproducibility
#1
Ain A Neuhaus, Yvonne Couch, Gina Hadley, Alastair M Buchan
Acute ischaemic stroke accounts for 6.5 million deaths per year, and by 2030 will result in the annual loss of over 200 million disability-adjusted life years globally. There have been considerable recent advances in the gold standard of acute ischaemic stroke treatment, some aspects of which-aspirin to prevent recurrence, and treating patients in specialized stroke wards-are widely applicable. Recanalization of the occluded artery through thrombolysis and/or endovascular thrombectomy is restricted to only a small proportion of patients, due to contra-indications and the costs associated with establishing the infrastructure to deliver these treatments...
June 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28641375/trazodone-to-change-the-risk-of-neurodegeneration-bedside-to-bench
#2
Einstein F Camargos, Otávio T Nóbrega
No abstract text is available yet for this article.
June 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28641370/reply-trazodone-to-change-the-risk-of-neurodegeneration-bedside-to-bench
#3
Mark Halliday, Giovanna R Mallucci
No abstract text is available yet for this article.
June 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28637197/pontocerebellar-hypoplasia-with-spinal-muscular-atrophy-pch1-identification-of-slc25a46-mutations-in-the-original-dutch-pch1-family
#4
Tessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, Ghazaleh Hajmousa, Hailiang Mei, Marina Dusl, Eleonora Aronica, Peter Barth, Frank Baas
No abstract text is available yet for this article.
June 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#5
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28633429/corrigendum
#6
(no author information available yet)
No abstract text is available yet for this article.
June 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28633367/cortical-glutamate-in-migraine
#7
Ronald Zielman, Jannie P Wijnen, Andrew Webb, Gerrit L J Onderwater, Itamar Ronen, Michel D Ferrari, Hermien E Kan, Gisela M Terwindt, Mark C Kruit
Cortical hyperexcitability due to enhanced glutamatergic activity has been implicated in migraine pathophysiology but direct evidence is lacking. Here we assessed glutamate levels and intracellular mobility of glutamate in the visual cortex of migraineurs in-between attacks. We included 50 migraineurs (23 with aura and 27 without aura) and 24 age- and gender-matched non-headache controls. We used proton magnetic resonance spectroscopy (1H-MRS) and diffusion weighted spectroscopy at 7 T with a single volume of interest (2 × 2 × 3 cm) located in the primary and secondary visual cortex...
June 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28595357/the-alzheimer-s-disease-transcriptome-mimics-the-neuroprotective-signature-of-igf-1-receptor-deficient-neurons
#8
Caroline George, Géraldine Gontier, Philippe Lacube, Jean-Christophe François, Martin Holzenberger, Saba Aïd
Seminal studies using post-mortem brains of patients with Alzheimer's disease evidenced aberrant insulin-like growth factor 1 receptor (IGF1R) signalling. Addressing causality, work in animal models recently demonstrated that long-term suppression of IGF1R signalling alleviates Alzheimer's disease progression and promotes neuroprotection. However, the underlying mechanisms remain largely elusive. Here, we showed that genetically ablating IGF1R in neurons of the ageing brain efficiently protects from neuroinflammation, anxiety and memory impairments induced by intracerebroventricular injection of amyloid-β oligomers...
June 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28582487/reply-capgras-syndrome-neuroanatomical-assessment-of-brain-mri-findings-in-an-adolescent-patient
#9
R Ryan Darby, Michael D Fox
No abstract text is available yet for this article.
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28582483/rare-gch1-heterozygous-variants-contributing-to-parkinson-s-disease
#10
Qian Xu, Kai Li, Qiying Sun, Dongxue Ding, Yuwen Zhao, Nannan Yang, Yang Luo, Zhenhua Liu, Yuan Zhang, Chunrong Wang, Kun Xia, Xinxiang Yan, Hong Jiang, Lu Shen, Beisha Tang, Jifeng Guo
No abstract text is available yet for this article.
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28582479/restless-rest-intrinsic-sensory-hyperactivity-and-disinhibition-in-post-traumatic-stress-disorder
#11
Kevin Clancy, Mingzhou Ding, Edward Bernat, Norman B Schmidt, Wen Li
Post-traumatic stress disorder is characterized by exaggerated threat response, and theoretical accounts to date have focused on impaired threat processing and dysregulated prefrontal-cortex-amygdala circuitry. Nevertheless, evidence is accruing for broad, threat-neutral sensory hyperactivity in post-traumatic stress disorder. As low-level, sensory processing impacts higher-order operations, such sensory anomalies can contribute to widespread dysfunctions, presenting an additional aetiological mechanism for post-traumatic stress disorder...
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28582476/capgras-syndrome-neuroanatomical-assessment-of-brain-mri-findings-in-an-adolescent-patient
#12
Mark R Ferguson, Cassie K Yu, Andrew V Poliakov, Seth D Friedman, Jon M McClellan
No abstract text is available yet for this article.
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28582474/corrigendum
#13
(no author information available yet)
No abstract text is available yet for this article.
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28582473/connectivity-in-ictal-single-photon-emission-computed-tomography-perfusion-a-cortico-cortical-evoked-potential-study
#14
Simon Tousseyn, Balu Krishnan, Zhong I Wang, Sattawut Wongwiangjunt, Chetan S Nayak, John C Mosher, Guiyun Wu, Wim Van Paesschen, Richard M Leahy, Jorge A Gonzalez-Martinez, Juan Bulacio, Imad M Najm, Andreas V Alexopoulos, Dileep R Nair
Subtraction ictal and interictal single photon emission computed tomography can demonstrate complex ictal perfusion patterns. Regions with ictal hyperperfusion are suggested to reflect seizure onset and propagation pathways. The significance of ictal hypoperfusion is not well understood. The aim of this study was to verify whether ictal perfusion changes, both hyper- and hypoperfusion, correspond to electrically connected brain networks. A total of 36 subtraction ictal and interictal perfusion studies were analysed in 31 consecutive medically refractory focal epilepsy patients, evaluated by stereo-electroencephalography that demonstrated a single focal onset...
June 3, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28575149/cerebrovascular-resistance-effects-on-cognitive-decline-cortical-atrophy-and-progression-to-dementia
#15
Belinda Yew, Daniel A Nation
Evidence for vascular contributions to Alzheimer's disease has been increasingly identified, with increased blood pressure and decreased cerebral blood flow both linked to in vivo biomarkers and clinical progression of Alzheimer's disease. We therefore hypothesized that an elevated ratio of blood pressure to cerebral blood flow, indicative of cerebrovascular resistance, would exhibit earlier and more widespread associations with Alzheimer's disease than cerebral blood flow alone. Further, we predicted that increased cerebrovascular resistance and amyloid retention would synergistically influence cognitive performance trajectories, independent of neuronal metabolism...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28575153/targeting-oxidative-stress-improves-disease-outcomes-in-a-rat-model-of-acquired-epilepsy
#16
Alberto Pauletti, Gaetano Terrone, Tawfeeq Shekh-Ahmad, Alessia Salamone, Teresa Ravizza, Massimo Rizzi, Anna Pastore, Rosaria Pascente, Li-Ping Liang, Bianca R Villa, Silvia Balosso, Andrey Y Abramov, Erwin A van Vliet, Ennio Del Giudice, Eleonora Aronica, Daniel J Antoine, Manisha Patel, Matthew C Walker, Annamaria Vezzani
Epilepsy therapy is based on antiseizure drugs that treat the symptom, seizures, rather than the disease and are ineffective in up to 30% of patients. There are no treatments for modifying the disease-preventing seizure onset, reducing severity or improving prognosis. Among the potential molecular targets for attaining these unmet therapeutic needs, we focused on oxidative stress since it is a pathophysiological process commonly occurring in experimental epileptogenesis and observed in human epilepsy. Using a rat model of acquired epilepsy induced by electrical status epilepticus, we show that oxidative stress occurs in both neurons and astrocytes during epileptogenesis, as assessed by measuring biochemical and histological markers...
May 30, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28575198/autoantibodies-to-nodal-isoforms-of-neurofascin-in-chronic-inflammatory-demyelinating-polyneuropathy
#17
Emilien Delmont, Constance Manso, Luis Querol, Andrea Cortese, Angela Berardinelli, Alessandro Lozza, Maya Belghazi, Pauline Malissart, Pierre Labauge, Guillaume Taieb, Nobuhiro Yuki, Isabel Illa, Shahram Attarian, Jérôme J Devaux
Chronic inflammatory demyelination polyneuropathy is a heterogeneous and treatable immune-mediated disorder that lacks biomarkers to support diagnosis. Recent evidence indicates that paranodal proteins (contactin 1, contactin-associated protein 1, and neurofascin-155) are the targets of autoantibodies in subsets of patients showing distinct clinical presentations. Here, we identified neurofascin-186 and neurofascin-140 as the main targets of autoantibodies in five patients presenting IgG reactivity against the nodes of Ranvier...
May 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28575151/brain-inflammation-accompanies-amyloid-in-the-majority-of-mild-cognitive-impairment-cases-due-to-alzheimer-s-disease
#18
Peter Parbo, Rola Ismail, Kim V Hansen, Ali Amidi, Frederik H Mårup, Hanne Gottrup, Hans Brændgaard, Bengt O Eriksson, Simon F Eskildsen, Torben E Lund, Anna Tietze, Paul Edison, Nicola Pavese, Morten G Stokholm, Per Borghammer, Rainer Hinz, Joel Aanerud, David J Brooks
Subjects with mild cognitive impairment associated with cortical amyloid-β have a greatly increased risk of progressing to Alzheimer's disease. We hypothesized that neuroinflammation occurs early in Alzheimer's disease and would be present in most amyloid-positive mild cognitive impairment cases. 11C-Pittsburgh compound B and 11C-(R)-PK11195 positron emission tomography was used to determine the amyloid load and detect the extent of neuroinflammation (microglial activation) in 42 mild cognitive impairment cases...
May 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549087/thalamic-alterations-remote-to-infarct-appear-as-focal-iron-accumulation-and-impact-clinical-outcome
#19
Grégory Kuchcinski, Fanny Munsch, Renaud Lopes, Antoine Bigourdan, Jason Su, Sharmila Sagnier, Pauline Renou, Jean-Pierre Pruvo, Brian K Rutt, Vincent Dousset, Igor Sibon, Thomas Tourdias
Thalamic alterations have been observed in infarcts initially sparing the thalamus but interrupting thalamo-cortical or cortico-thalamic projections. We aimed at extending this knowledge by demonstrating with in vivo imaging sensitive to iron accumulation, one marker of neurodegeneration, that (i) secondary thalamic alterations are focally located in specific thalamic nuclei depending on the initial infarct location; and (ii) such secondary alterations can contribute independently to the long-term outcome. To tackle this issue, 172 patients with an infarct initially sparing the thalamus were prospectively evaluated clinically and with magnetic resonance imaging to quantify iron through R2* map at 24-72 h and at 1-year follow-up...
May 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549077/clinical-criteria-for-subtyping-parkinson-s-disease-biomarkers-and-longitudinal-progression
#20
Seyed-Mohammad Fereshtehnejad, Yashar Zeighami, Alain Dagher, Ronald B Postuma
Parkinson's disease varies widely in clinical manifestations, course of progression and biomarker profiles from person to person. Identification of distinct Parkinson's disease subtypes is of great priority to illuminate underlying pathophysiology, predict progression and develop more efficient personalized care approaches. There is currently no clear way to define and divide subtypes in Parkinson's disease. Using data from the Parkinson's Progression Markers Initiative, we aimed to identify distinct subgroups via cluster analysis of a comprehensive dataset at baseline (i...
May 25, 2017: Brain: a Journal of Neurology
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