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Brain: a Journal of Neurology

Kaustubh Supekar, John Kochalka, Marie Schaer, Holly Wakeman, Shaozheng Qin, Aarthi Padmanabhan, Vinod Menon
Lack of interest in social interaction is a hallmark of autism spectrum disorder. Animal studies have implicated the mesolimbic reward pathway in driving and reinforcing social behaviour, but little is known about the integrity of this pathway and its behavioural consequences in children with autism spectrum disorder. Here we test the hypothesis that the structural and functional integrity of the mesolimbic reward pathway is aberrant in children with autism spectrum disorder, and these aberrancies contribute to the social interaction impairments...
July 17, 2018: Brain: a Journal of Neurology
Michel J Grothe, Jorge Sepulcre, Gabriel Gonzalez-Escamilla, Irina Jelistratova, Michael Schöll, Oskar Hansson, Stefan J Teipel
Amyloid deposition and neurofibrillary degeneration in Alzheimer's disease specifically affect discrete neuronal systems, but the underlying mechanisms that render some brain regions more vulnerable to Alzheimer's disease pathology than others remain largely unknown. Here we studied molecular properties underlying these distinct regional vulnerabilities by analysing Alzheimer's disease-typical neuroimaging patterns of amyloid deposition and neurodegeneration in relation to regional gene expression profiles of the human brain...
July 16, 2018: Brain: a Journal of Neurology
Juliana Gurgel-Giannetti, David S Lynch, Anderson Rodrigues Brandão de Paiva, Leandro Tavares Lucato, Guilherme Yamamoto, Christer Thomsen, Somsuvro Basu, Fernando Freua, Alexandre Varella Giannetti, Bruno Della Ripa de Assis, Mara Dell Ospedale Ribeiro, Isabella Barcelos, Katiane Sayão Souza, Fernanda Monti, Uirá Souto Melo, Simone Amorim, Leonardo G L Silva, Lúcia Inês Macedo-Souza, Angela M Vianna-Morgante, Michio Hirano, Marjo S Van der Knaap, Roland Lill, Mariz Vainzof, Anders Oldfors, Henry Houlden, Fernando Kok
Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of [2Fe-2S] clusters in humans. We describe and genetically define a novel complex neurological syndrome identified in two Brazilian families, with a novel homozygous mutation in FDX2...
July 13, 2018: Brain: a Journal of Neurology
Mariah L Hoye, Melissa R Regan, Leah A Jensen, Allison M Lake, Linga V Reddy, Svetlana Vidensky, Jean-Philippe Richard, Nicholas J Maragakis, Jeffrey D Rothstein, Joseph D Dougherty, Timothy M Miller
We recently demonstrated that microRNA-218 (miR-218) is greatly enriched in motor neurons and is released extracellularly in amyotrophic lateral sclerosis model rats. To determine if the released, motor neuron-derived miR-218 may have a functional role in amyotrophic lateral sclerosis, we examined the effect of miR-218 on neighbouring astrocytes. Surprisingly, we found that extracellular, motor neuron-derived miR-218 can be taken up by astrocytes and is sufficient to downregulate an important glutamate transporter in astrocytes [excitatory amino acid transporter 2 (EAAT2)]...
July 10, 2018: Brain: a Journal of Neurology
Kate E Watkins, Denise Klein
No abstract text is available yet for this article.
July 9, 2018: Brain: a Journal of Neurology
Laura E Hughes, Timothy Rittman, Trevor W Robbins, James B Rowe
The distribution of pathology in frontotemporal dementia is anatomically selective, to distinct cortical regions and with differential neurodegeneration across the cortical layers. The cytoarchitecture and connectivity of cortical laminae preferentially supports frequency-specific oscillations and hierarchical information transfer between brain regions. We therefore predicted that in frontotemporal dementia, core functional deficits such as disinhibition would be associated with differences in the frequency spectrum and altered cross-frequency coupling between frontal cortical regions...
July 9, 2018: Brain: a Journal of Neurology
Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L I van Gassen, Maja Hempel, Tobias B Haack, Anja Baresic, Casie A Genetti, Mariana F A Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas Mullen, Hermann-Josef Lüdecke, Antonio M Lerario, Robin Kobbe, Thorsten Krieger, Benedicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, Maria J Guillen Sacoto, Julie Gauthier, Fadi F Hamdan, Anne-Marie Laberge, Philippe M Campeau, Raymond J Louie, Sara S Cathey, Immo Prinz, Alexander A L Jorge, Paulien A Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M Strom, Pankaj B Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch
The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune deficiency. Using massively parallel sequencing we identified 13 patients bearing heterozygous germline alterations in BCL11B...
July 9, 2018: Brain: a Journal of Neurology
Alana M Thackray, Olivier Andréoletti, Raymond Bujdoso
Mammalian prions propagate by template-directed misfolding and aggregation of normal cellular prion related protein PrPC as it converts into disease-associated conformers collectively referred to as PrPSc. Mammalian species may be permissive for prion disease because these hosts have co-evolved specific co-factors that assist PrPC conformational change and prion propagation. We have tested this hypothesis by examining whether faithful prion propagation occurs in the normally PrPC-null invertebrate host Drosophila melanogaster...
July 8, 2018: Brain: a Journal of Neurology
Tao Yu, Xueyuan Wang, Yongjie Li, Guojun Zhang, Gregory Worrell, Patrick Chauvel, Duanyu Ni, Liang Qiao, Chang Liu, Liping Li, Liankun Ren, Yuping Wang
Epilepsy has been classically seen as a brain disorder resulting from abnormally enhanced neuronal excitability and synchronization. Although it has been described since antiquity, there are still significant challenges achieving the therapeutic goal of seizure freedom. Deep brain stimulation of the anterior nucleus of the thalamus has emerged as a promising therapy for focal drug-resistant epilepsy; the basic mechanism of action, however, remains unclear. Here, we show that desynchronization is a potential mechanism of deep brain stimulation of the anterior nucleus of the thalamus by studying local field potentials recordings from the cortex during high-frequency stimulation (130 Hz) of the anterior nucleus of the thalamus in nine patients with drug-resistant focal epilepsy...
July 6, 2018: Brain: a Journal of Neurology
Ilaria Maddalena Marone, Francesco De Logu, Romina Nassini, Muryel De Carvalho Goncalves, Silvia Benemei, Juliano Ferreira, Piyush Jain, Simone Li Puma, Nigel W Bunnett, Pierangelo Geppetti, Serena Materazzi
Glyceryl trinitrate is administered as a provocative test for migraine pain. Glyceryl trinitrate causes prolonged mechanical allodynia in rodents, which temporally correlates with delayed glyceryl trinitrate-evoked migraine attacks in patients. However, the underlying mechanism of the allodynia evoked by glyceryl trinitrate is unknown. The proalgesic transient receptor potential ankyrin 1 (TRPA1) channel, expressed by trigeminal nociceptors, is sensitive to oxidative stress and is targeted by nitric oxide or its by-products...
July 6, 2018: Brain: a Journal of Neurology
Marina L Kennerson, Alastair C Corbett, Melina Ellis, Gonzalo Perez-Siles, Garth A Nicholson
No abstract text is available yet for this article.
July 5, 2018: Brain: a Journal of Neurology
Emil Ylikallio, Rosa Woldegebriel, Henna Tyynismaa
No abstract text is available yet for this article.
July 5, 2018: Brain: a Journal of Neurology
Juho Joutsa, Andreas Horn, Joey Hsu, Michael D Fox
Bradykinesia, rigidity, and tremor frequently co-occur, a clinical syndrome known as parkinsonism. Because this syndrome is commonly seen in Parkinson's disease, symptoms are often attributed to cell loss in the substantia nigra. However, parkinsonism occurs in several other neurological disorders and often fails to correlate with nigrostriatal pathology, raising the question of which brain region(s) cause this syndrome. Here, we studied cases of new-onset parkinsonism following focal brain lesions. We identified 29 cases, only 31% of which hit the substantia nigra...
July 2, 2018: Brain: a Journal of Neurology
Eva Janzen, Natalia Mendoza-Ferreira, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Kristina Hupperich, Theresa Tschanz, Vanessa Grysko, Markus Riessland, Matthias Hammerschmidt, Frank Rigo, C Frank Bennett, Min Jeong Kye, Laura Torres-Benito, Brunhilde Wirth
Autosomal recessive spinal muscular atrophy (SMA), the leading genetic cause of infant lethality, is caused by homozygous loss of the survival motor neuron 1 (SMN1) gene. SMA disease severity inversely correlates with the number of SMN2 copies, which in contrast to SMN1, mainly produce aberrantly spliced transcripts. Recently, the first SMA therapy based on antisense oligonucleotides correcting SMN2 splicing, namely SPINRAZATM, has been approved. Nevertheless, in type I SMA-affected individuals-representing 60% of SMA patients-the elevated SMN level may still be insufficient to restore motor neuron function lifelong...
June 28, 2018: Brain: a Journal of Neurology
Kameryn M Butler, Olivia A Moody, Elisabeth Schuler, Jason Coryell, John J Alexander, Andrew Jenkins, Andrew Escayg
GABAA receptors are ligand-gated anion channels that are important regulators of neuronal inhibition. Mutations in several genes encoding receptor subunits have been identified in patients with various types of epilepsy, ranging from mild febrile seizures to severe epileptic encephalopathy. Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. Targeted resequencing of 279 additional epilepsy patients identified 19 rare variants from nine GABAA receptor genes, including a novel de novo missense variant in GABRA2 (c...
June 28, 2018: Brain: a Journal of Neurology
(no author information available yet)
No abstract text is available yet for this article.
June 27, 2018: Brain: a Journal of Neurology
Shelley L Forrest, Jillian J Kril, Glenda M Halliday
No abstract text is available yet for this article.
June 26, 2018: Brain: a Journal of Neurology
Emil Ygland, Maria Landqvist Waldö, Elisabet Englund, Andreas Puschmann, Christer Nilsson
No abstract text is available yet for this article.
June 26, 2018: Brain: a Journal of Neurology
Frances K Wiseman, Laura J Pulford, Chris Barkus, Fan Liao, Erik Portelius, Robin Webb, Lucia Chávez-Gutiérrez, Karen Cleverley, Sue Noy, Olivia Sheppard, Toby Collins, Caroline Powell, Claire J Sarell, Matthew Rickman, Xun Choong, Justin L Tosh, Carlos Siganporia, Heather T Whittaker, Floy Stewart, Maria Szaruga, Michael P Murphy, Kaj Blennow, Bart de Strooper, Henrik Zetterberg, David Bannerman, David M Holtzman, Victor L J Tybulewicz, Elizabeth M C Fisher
Down syndrome, caused by trisomy of chromosome 21, is the single most common risk factor for early-onset Alzheimer's disease. Worldwide approximately 6 million people have Down syndrome, and all these individuals will develop the hallmark amyloid plaques and neurofibrillary tangles of Alzheimer's disease by the age of 40 and the vast majority will go on to develop dementia. Triplication of APP, a gene on chromosome 21, is sufficient to cause early-onset Alzheimer's disease in the absence of Down syndrome. However, whether triplication of other chromosome 21 genes influences disease pathogenesis in the context of Down syndrome is unclear...
June 26, 2018: Brain: a Journal of Neurology
Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tomás Cano-Orgaz, Astrid D Adarmes, Carlota Méndez-Del-Barrio, Silvia Jesús, Pablo Mir, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueñas
The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia, pigmentary retinopathy, seizures, lower motor neuron signs, or peripheral neuropathy. Over 41 different SCA subtypes have been described evidencing the high clinical and genetic heterogeneity. We previously reported a novel spinocerebellar ataxia type subtype, SCA37, linked to an 11-Mb genomic region on 1p32, in a large Spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements...
June 24, 2018: Brain: a Journal of Neurology
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