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Brain: a Journal of Neurology

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https://www.readbyqxmd.com/read/29762648/a-new-framework-for-conceptualizing-symptoms-in-frontotemporal-dementia-from-animal-models-to-the-clinic
#1
Stephanie Wong, Bernard W Balleine, Fiona Kumfor
Behavioural-variant frontotemporal dementia is characterized by a number of ostensibly disparate clinical features, which have largely been considered independently. This Update proposes an integrated conceptual framework for these symptoms, by bringing together findings from animal studies, functional neuroimaging and behavioural neurology. The combined evidence indicates that many of the clinical symptoms--such as altered eating behaviour; overspending and susceptibility to scams; reduced empathy and socially inappropriate behaviour; apathy and stereotyped/ritualistic behaviour--can be conceptualized as a common underlying deficiency in goal-directed behaviour and the concomitant emergence of habits...
May 11, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29757347/role-of-inhibitory-control-in-modulating-focal-seizure-spread
#2
Jyun-You Liou, Hongtao Ma, Michael Wenzel, Mingrui Zhao, Eliza Baird-Daniel, Elliot H Smith, Andy Daniel, Ronald Emerson, Rafael Yuste, Theodore H Schwartz, Catherine A Schevon
Focal seizure propagation is classically thought to be spatially contiguous. However, distribution of seizures through a large-scale epileptic network has been theorized. Here, we used a multielectrode array, wide field calcium imaging, and two-photon calcium imaging to study focal seizure propagation pathways in an acute rodent neocortical 4-aminopyridine model. Although ictal neuronal bursts did not propagate beyond a 2-3-mm region, they were associated with hemisphere-wide field potential fluctuations and parvalbumin-positive interneuron activity outside the seizure focus...
May 10, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29746644/relationships-between-selective-neuronal-loss-and-microglial-activation-after-ischaemic-stroke-in-man
#3
Rhiannon S Morris, P Simon Jones, Josef A Alawneh, Young T Hong, Tim D Fryer, Franklin I Aigbirhio, Elizabeth A Warburton, Jean-Claude Baron
Modern ischaemic stroke management involves intravenous thrombolysis followed by mechanical thrombectomy, which allows markedly higher rates of recanalization and penumbral salvage than thrombolysis alone. However, <50% of treated patients eventually enjoy independent life. It is therefore important to identify complementary therapeutic targets. In rodent models, the salvaged penumbra is consistently affected by selective neuronal loss, which may hinder recovery by interfering with plastic processes, as well as by microglial activation, which may exacerbate neuronal death...
May 9, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29741648/progression-of-regional-grey-matter-atrophy-in-multiple-sclerosis
#4
Arman Eshaghi, Razvan V Marinescu, Alexandra L Young, Nicholas C Firth, Ferran Prados, M Jorge Cardoso, Carmen Tur, Floriana De Angelis, Niamh Cawley, Wallace J Brownlee, Nicola De Stefano, M Laura Stromillo, Marco Battaglini, Serena Ruggieri, Claudio Gasperini, Massimo Filippi, Maria A Rocca, Alex Rovira, Jaume Sastre-Garriga, Jeroen J G Geurts, Hugo Vrenken, Viktor Wottschel, Cyra E Leurs, Bernard Uitdehaag, Lukas Pirpamer, Christian Enzinger, Sebastien Ourselin, Claudia A Gandini Wheeler-Kingshott, Declan Chard, Alan J Thompson, Frederik Barkhof, Daniel C Alexander, Olga Ciccarelli
Grey matter atrophy is present from the earliest stages of multiple sclerosis, but its temporal ordering is poorly understood. We aimed to determine the sequence in which grey matter regions become atrophic in multiple sclerosis and its association with disability accumulation. In this longitudinal study, we included 1417 subjects: 253 with clinically isolated syndrome, 708 with relapsing-remitting multiple sclerosis, 128 with secondary-progressive multiple sclerosis, 125 with primary-progressive multiple sclerosis, and 203 healthy control subjects from seven European centres...
May 8, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29741608/jak-inhibitor-improves-type-i-interferon-induced-damage-proof-of-concept-in-dermatomyositis
#5
Leandro Ladislau, Xavier Suárez-Calvet, Ségolène Toquet, Océane Landon-Cardinal, Damien Amelin, Marine Depp, Mathieu P Rodero, Denisa Hathazi, Darragh Duffy, Vincent Bondet, Corinna Preusse, Boris Bienvenu, Flore Rozenberg, Andreas Roos, Claudia F Benjamim, Eduard Gallardo, Isabel Illa, Vincent Mouly, Werner Stenzel, Gillian Butler-Browne, Olivier Benveniste, Yves Allenbach
Dermatomyositis is an acquired auto-immune disease characterized by skin lesions and muscle-specific pathological features such as perifascicular muscle fibre atrophy and vasculopathy. Dermatomyositis patients display an upregulation of type I interferon-inducible genes in muscle fibres, endothelial cells, skin and peripheral blood. However, the effect of type I interferon on muscle tissue has not yet been determined. Our aim was to study the pathogenicity of type I interferon in vitro and to evaluate the efficacy of the type I interferon pathway blockade for therapeutic purposes...
May 8, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29741613/lysosomal-storage-disorder-gene-variants-in-multiple-system-atrophy
#6
Lasse Pihlstrøm, Lucia Schottlaender, Viorica Chelban, Wassilios G Meissner, Monica Federoff, Andy Singleton, Henry Houlden
No abstract text is available yet for this article.
May 7, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29741598/reply-lysosomal-storage-disorder-gene-variants-in-multiple-system-atrophy
#7
Joshua M Shulman
No abstract text is available yet for this article.
May 7, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29733334/tau-reduction-in-the-presence-of-amyloid-%C3%AE-prevents-tau-pathology-and-neuronal-death-in-vivo
#8
Sarah L DeVos, Bianca T Corjuc, Caitlin Commins, Simon Dujardin, Riley N Bannon, Diana Corjuc, Benjamin D Moore, Rachel E Bennett, Mehdi Jorfi, Jose A Gonzales, Patrick M Dooley, Allyson D Roe, Rose Pitstick, Daniel Irimia, Matthew P Frosch, George A Carlson, Bradley T Hyman
Several studies have now supported the use of a tau lowering agent as a possible therapy in the treatment of tauopathy disorders, including Alzheimer's disease. In human Alzheimer's disease, however, concurrent amyloid-β deposition appears to synergize and accelerate tau pathological changes. Thus far, tau reduction strategies that have been tested in vivo have been examined in the setting of tau pathology without confounding amyloid-β deposition. To determine whether reducing total human tau expression in a transgenic model where there is concurrent amyloid-β plaque formation can still reduce tau pathology and protect against neuronal loss, we have taken advantage of the regulatable tau transgene in APP/PS1 × rTg4510 mice...
May 3, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29726905/measurement-of-regional-rates-of-protein-synthesis-in-human-brain-in-vivo-with-l-1-11c-leucine-pet
#9
Carolyn B Smith, Kathleen C Schmidt
No abstract text is available yet for this article.
May 3, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29726903/reply-measurement-of-regional-rates-of-protein-synthesis-in-human-brain-in-vivo-with-l-1-11c-leucine-pet
#10
Joey S J Smeets, Luc J C van Loon
No abstract text is available yet for this article.
May 3, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29722793/autism-associated-16p11-2-microdeletion-impairs-prefrontal-functional-connectivity-in-mouse-and-human
#11
Alice Bertero, Adam Liska, Marco Pagani, Roberta Parolisi, Maria Esteban Masferrer, Marta Gritti, Matteo Pedrazzoli, Alberto Galbusera, Alessia Sarica, Antonio Cerasa, Mario Buffelli, Raffaella Tonini, Annalisa Buffo, Cornelius Gross, Massimo Pasqualetti, Alessandro Gozzi
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions...
May 2, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29718139/ion-channels-in-eeg-isolating-channel-dysfunction-in-nmda-receptor-antibody-encephalitis
#12
Mkael Symmonds, Catherine H Moran, M Isabel Leite, Camilla Buckley, Sarosh R Irani, Klaas Enno Stephan, Karl J Friston, Rosalyn J Moran
Neurological and psychiatric practice frequently lack diagnostic probes that can assess mechanisms of neuronal communication non-invasively in humans. In N-methyl-d-aspartate (NMDA) receptor antibody encephalitis, functional molecular assays are particularly important given the presence of NMDA antibodies in healthy populations, the multifarious symptomology and the lack of radiological signs. Recent advances in biophysical modelling techniques suggest that inferring cellular-level properties of neural circuits from macroscopic measures of brain activity is possible...
April 30, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29718131/retraining-speech-production-and-fluency-in-non-fluent-agrammatic-primary-progressive-aphasia
#13
Maya L Henry, H Isabel Hubbard, Stephanie M Grasso, Maria Luisa Mandelli, Stephen M Wilson, Mithra T Sathishkumar, Julius Fridriksson, Wylin Daigle, Adam L Boxer, Bruce L Miller, Maria Luisa Gorno-Tempini
The non-fluent/agrammatic variant of primary progressive aphasia (nfvPPA) presents with a gradual decline in grammar and motor speech resulting from selective degeneration of speech-language regions in the brain. There has been considerable progress in identifying treatment approaches to remediate language deficits in other primary progressive aphasia variants; however, interventions for the core deficits in nfvPPA have yet to be systematically investigated. Further, the neural mechanisms that support behavioural restitution in the context of neurodegeneration are not well understood...
April 30, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#14
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29701820/cerebello-cortical-network-fingerprints-differ-between-essential-parkinson-s-and-mimicked-tremors
#15
Muthuraman Muthuraman, Jan Raethjen, Nabin Koirala, Abdul Rauf Anwar, Kidist G Mideksa, Rodger Elble, Sergiu Groppa, Günter Deuschl
Cerebello-thalamo-cortical loops play a major role in the emergence of pathological tremors and voluntary rhythmic movements. It is unclear whether these loops differ anatomically or functionally in different types of tremor. We compared age- and sex-matched groups of patients with Parkinson's disease or essential tremor and healthy controls (n = 34 per group). High-density 256-channel EEG and multi-channel EMG from extensor and flexor muscles of both wrists were recorded simultaneously while extending the hands against gravity with the forearms supported...
April 26, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29688388/brain-properties-predict-proximity-to-symptom-onset-in-sporadic-alzheimer-s-disease
#16
Jacob W Vogel, Etienne Vachon-Presseau, Alexa Pichet Binette, Angela Tam, Pierre Orban, Renaud La Joie, Mélissa Savard, Cynthia Picard, Judes Poirier, Pierre Bellec, John C S Breitner, Sylvia Villeneuve
Alzheimer's disease is preceded by a lengthy 'preclinical' stage spanning many years, during which subtle brain changes occur in the absence of overt cognitive symptoms. Predicting when the onset of disease symptoms will occur is an unsolved challenge in individuals with sporadic Alzheimer's disease. In individuals with autosomal dominant genetic Alzheimer's disease, the age of symptom onset is similar across generations, allowing the prediction of individual onset times with some accuracy. We extend this concept to persons with a parental history of sporadic Alzheimer's disease to test whether an individual's symptom onset age can be informed by the onset age of their affected parent, and whether this estimated onset age can be predicted using only MRI...
April 23, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29688280/the-occurrence-of-benign-brain-tumours-in-transgender-individuals-during-cross-sex-hormone-treatment
#17
Nienke M Nota, Chantal M Wiepjes, Christel J M de Blok, Louis J G Gooren, Saskia M Peerdeman, Baudewijntje P C Kreukels, Martin den Heijer
Benign brain tumours may be hormone sensitive. To induce physical characteristics of the desired gender, transgender individuals often receive cross-sex hormone treatment, sometimes in higher doses than hypogonadal individuals. To date, long-term (side) effects of cross-sex hormone treatment are largely unknown. In the present retrospective chart study we aimed to compare the incidence of common benign brain tumours: meningiomas, pituitary adenomas (non-secretive and secretive), and vestibular schwannomas in transgender individuals receiving cross-sex hormone treatment, with those reported in general Dutch or European populations...
April 23, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29688408/spatiotemporal-distribution-of-fibrinogen-in-marmoset-and-human-inflammatory-demyelination
#18
Nathanael J Lee, Seung-Kwon Ha, Pascal Sati, Martina Absinta, Nicholas J Luciano, Jennifer A Lefeuvre, Matthew K Schindler, Emily C Leibovitch, Jae Kyu Ryu, Mark A Petersen, Afonso C Silva, Steven Jacobson, Katerina Akassoglou, Daniel S Reich
Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system. Although it has been extensively studied, the proximate trigger of the immune response remains uncertain. Experimental autoimmune encephalomyelitis in the common marmoset recapitulates many radiological and pathological features of focal multiple sclerosis lesions in the cerebral white matter, unlike traditional experimental autoimmune encephalomyelitis in rodents. This provides an opportunity to investigate how lesions form as well as the relative timing of factors involved in lesion pathogenesis, especially during early stages of the disease...
April 20, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29672757/time-for-a-quick-word-the-striking-benefits-of-training-speed-and-accuracy-of-word-retrieval-in-post-stroke-aphasia
#19
Paul Conroy, Christina Sotiropoulou Drosopoulou, Gina F Humphreys, Ajay D Halai, Matthew A Lambon Ralph
One-third of stroke survivors experience deficits in word retrieval as a core characteristic of their aphasia, which is frustrating, socially limiting and disabling for their professional and everyday lives. The, as yet, undiscovered 'holy grail' of clinical practice is to establish a treatment that not only improves item naming, but also generalizes to patients' connected speech. Speech production in healthy participants is a remarkable feat of cognitive processing being both rapid (at least 120 words per minute) and accurate (∼one error per 1000 words)...
April 17, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29672680/cognitive-correlates-of-%C3%AE-4%C3%AE-2-nicotinic-acetylcholine-receptors-in-mild-alzheimer-s-dementia
#20
Osama Sabri, Philipp M Meyer, Susanne Gräf, Swen Hesse, Stephan Wilke, Georg-Alexander Becker, Michael Rullmann, Marianne Patt, Julia Luthardt, Gudrun Wagenknecht, Alexander Hoepping, Rene Smits, Annegret Franke, Bernhard Sattler, Solveig Tiepolt, Steffen Fischer, Winnie Deuther-Conrad, Ulrich Hegerl, Henryk Barthel, Peter Schönknecht, Peter Brust
In early Alzheimer's dementia, there is a need for PET biomarkers of disease progression with close associations to cognitive dysfunction that may aid to predict further cognitive decline and neurodegeneration. Amyloid biomarkers are not suitable for that purpose. The α4β2 nicotinic acetylcholine receptors (α4β2-nAChRs) are widely abundant in the human brain. As neuromodulators they play an important role in cognitive functions such as attention, learning and memory. Post-mortem studies reported lower expression of α4β2-nAChRs in more advanced Alzheimer's dementia...
April 17, 2018: Brain: a Journal of Neurology
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